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ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2

Allelic Variants (15 Selected Examples) :

Number 👁 Image	Phenotype 👁 Image	Mutation 👁 Image	SNP	gnomAD	ClinVar
.0001	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, INCLUDED	ERCC2, LEU461VAL	rs121913016 Ensembl NCBI UCSC	rs121913016	RCV000018267...
.0002	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, GLN726TER	rs121913017 Ensembl NCBI UCSC	rs121913017	RCV000018269
.0003	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, ALA725PRO	rs121913018 Ensembl NCBI UCSC	rs121913018	RCV000018270...
.0004	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, 4-BP DEL, NT668	rs767747355 Ensembl NCBI UCSC	rs767747355	RCV002266015...
.0005	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, SER541ARG	rs121913019 Ensembl NCBI UCSC	rs121913019	RCV000018272...
.0006	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED	ERCC2, ARG112HIS	rs121913020 Ensembl NCBI UCSC	rs121913020	RCV000018273...
.0007	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, ARG658CYS	rs121913021 Ensembl NCBI UCSC	rs121913021	RCV000018275...
.0008	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, GLY713ARG	rs121913022 Ensembl NCBI UCSC	-	RCV000018276...
.0009	CEREBROOCULOFACIOSKELETAL SYNDROME 2 (1 patient)	ERCC2, ASP681ASN	rs121913023 Ensembl NCBI UCSC	rs121913023	RCV000018277...
.0010	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D CEREBROOCULOFACIOSKELETAL SYNDROME 2, INCLUDED (1 patient)	ERCC2, ARG616TRP	rs121913024 Ensembl NCBI UCSC	rs121913024	RCV000018278...
.0011	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, 2-BP DEL, 1781TT	rs587778271 Ensembl NCBI UCSC	rs587778271	RCV000120767...
.0012	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, 3-BP DEL/6-BP INS, NT1823	rs2123229159 Ensembl NCBI UCSC	-	RCV000018281
.0013	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, LEU485PRO	rs121913025 Ensembl NCBI UCSC	-	RCV000018282
.0014	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, ARG722TRP	rs121913026 Ensembl NCBI UCSC	rs121913026	RCV000018283...
.0015	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, ARG683TRP	rs41556519 Ensembl NCBI UCSC	rs41556519	RCV000018284...

126340

ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2

Allelic Variants (15 Selected Examples :

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, INCLUDED	ERCC2, LEU461VAL	rs121913016	rs121913016	RCV000018267, RCV000120764, RCV000171546, RCV000897210, RCV002256001, RCV002513097
.0002	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, GLN726TER	rs121913017	rs121913017	RCV000018269
.0003	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, ALA725PRO	rs121913018	rs121913018	RCV000018270, RCV001851906, RCV002490383, RCV003155035, RCV003343601, RCV003460482
.0004	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, 4-BP DEL, NT668	rs767747355	rs767747355	RCV002266015, RCV003464133, RCV003560844
.0005	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, SER541ARG	rs121913019	rs121913019	RCV000018272, RCV005887538
.0006	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED	ERCC2, ARG112HIS	rs121913020	rs121913020	RCV000018273, RCV000018274, RCV000424822, RCV003466865
.0007	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, ARG658CYS	rs121913021	rs121913021	RCV000018275, RCV002482884, RCV002513098, RCV003153304, RCV003460483
.0008	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, GLY713ARG	rs121913022	-	RCV000018276, RCV003230368
.0009	CEREBROOCULOFACIOSKELETAL SYNDROME 2 (1 patient)	ERCC2, ASP681ASN	rs121913023	rs121913023	RCV000018277, RCV003114198, RCV003488344, RCV005328199
.0010	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D CEREBROOCULOFACIOSKELETAL SYNDROME 2, INCLUDED (1 patient)	ERCC2, ARG616TRP	rs121913024	rs121913024	RCV000018278, RCV000171547, RCV001582486, RCV002468972, RCV005016278
.0011	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, 2-BP DEL, 1781TT	rs587778271	rs587778271	RCV000120767, RCV000778548, RCV001008079, RCV002498561, RCV003230409, RCV003343649, RCV003444202, RCV003467077, RCV004529999
.0012	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, 3-BP DEL/6-BP INS, NT1823	rs2123229159	-	RCV000018281
.0013	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, LEU485PRO	rs121913025	-	RCV000018282
.0014	TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	ERCC2, ARG722TRP	rs121913026	rs121913026	RCV000018283, RCV000255624, RCV000677676, RCV000763052, RCV001199920, RCV001449816, RCV004532382
.0015	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	ERCC2, ARG683TRP	rs41556519	rs41556519	RCV000018284, RCV000518900, RCV000623275, RCV000763053, RCV003460484, RCV005638403

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URL: https://omim.org/allelicVariants/126340

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