C0268138[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 785627	NM_000400.4(ERCC2):c.2191-4G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D +3 more	GConflicting classifications of pathogenicity
Select item 16781	NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)	ERCC2 (A725P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 16792	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2 (R722W)	Single nucleotide variant (missense variant)	ERCC2-related disorder +6 more	GPathogenic
Select item 134102	NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	ERCC2 (A717G)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 264679	NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	ERCC2	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +3 more	GPathogenic
Select item 16793	NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	ERCC2	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2441812	NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)	ERCC2 (D673fs)	Deletion (frameshift variant)	Trichothiodystrophy 1, photosensitive +2 more	GLikely pathogenic
Select item 1028729	NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)	ERCC2 (K671fs)	Insertion (frameshift variant)	Xeroderma pigmentosum, group D +2 more	GPathogenic
Select item 16785	NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	ERCC2 (R658C)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +4 more	GPathogenic/Likely pathogenic
Select item 134099	NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	ERCC2 (Q629H)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +5 more	GUncertain significance
Select item 329508	NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	ERCC2 (R616P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +5 more	GPathogenic
Select item 16788	NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	ERCC2 (R616W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 893461	NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)	ERCC2 (V611A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 134095	NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	ERCC2 (F568fs)	Deletion (frameshift variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 894684	NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)	ERCC2 (V447I)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +2 more	GConflicting classifications of pathogenicity
Select item 1029822	NM_000400.4(ERCC2):c.949+3G>T	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 631814	NM_000400.4(ERCC2):c.816-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 402226	NM_000400.4(ERCC2):c.594+2_594+5del	ERCC2	Deletion (splice donor variant)	Xeroderma pigmentosum +4 more	GPathogenic/Likely pathogenic
Select item 1322829	NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)	ERCC2	Deletion (nonsense)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic
Select item 16784	NM_000400.4(ERCC2):c.335G>A (p.Arg112His)	ERCC2 (R112H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 329529	NM_000400.4(ERCC2):c.183+2T>A	ERCC2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 134098	NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	ERCC2 (Y16C)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 1, photosensitive +5 more	GConflicting classifications of pathogenicity

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Items: 22