"ITMI"[submitter] AND "BIVM-ERCC5"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135536	NM_000123.4(ERCC5):c.-1C>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135535	NM_000123.4(ERCC5):c.-1C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 134159	NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	BIVM-ERCC5, ERCC5 (P19L)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group G +4 more	GConflicting classifications of pathogenicity
Select item 134176	NM_000123.4(ERCC5):c.212G>A (p.Arg71His)	BIVM-ERCC5, ERCC5 (R71H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 134177	NM_000123.4(ERCC5):c.362C>T (p.Thr121Ile)	BIVM-ERCC5, ERCC5 (T121I +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134178	NM_000123.4(ERCC5):c.433G>A (p.Val145Ile)	ERCC5, BIVM-ERCC5 (V145I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 134179	NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr)	ERCC5, BIVM-ERCC5 (P198T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134180	NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys)	BIVM-ERCC5, ERCC5 (R214C +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +2 more	GBenign/Likely benign
Select item 134181	NM_000123.4(ERCC5):c.641G>A (p.Arg214His)	BIVM-ERCC5, ERCC5 (R214H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +2 more	GBenign/Likely benign
Select item 129012	NM_000123.4(ERCC5):c.760A>G (p.Met254Val)	BIVM-ERCC5, ERCC5 (M254V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 134182	NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)	BIVM-ERCC5, ERCC5 (Q256R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 134185	NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)	ERCC5, BIVM-ERCC5 (R263Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134184	NM_000123.4(ERCC5):c.848C>T (p.Ser283Phe)	BIVM-ERCC5, ERCC5 (S283F +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134183	NM_000123.4(ERCC5):c.876A>G (p.Ile292Met)	ERCC5, BIVM-ERCC5 (I292M +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 134187	NM_000123.4(ERCC5):c.1127C>T (p.Ala376Val)	BIVM-ERCC5, ERCC5 (A376V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 134193	NM_000123.4(ERCC5):c.1259G>A (p.Arg420His)	BIVM-ERCC5, ERCC5 (R420H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +2 more	GConflicting classifications of pathogenicity
Select item 134188	NM_001204425.2(BIVM-ERCC5):c.2702C>T (p.Ala901Val)	ERCC5, BIVM-ERCC5 (A447V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 134194	NM_000123.4(ERCC5):c.1556G>A (p.Gly519Glu)	ERCC5, BIVM-ERCC5 (G519E +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134189	NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)	BIVM-ERCC5, ERCC5 (P524L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 129010	NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)	BIVM-ERCC5, ERCC5 (C529S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 134190	NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser)	ERCC5, BIVM-ERCC5 (P571S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 134191	NM_000123.4(ERCC5):c.1738C>T (p.Pro580Ser)	BIVM-ERCC5, ERCC5 (P580S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134195	NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	BIVM-ERCC5, ERCC5 (V597L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 134186	NM_000123.4(ERCC5):c.1802A>G (p.Glu601Gly)	BIVM-ERCC5, ERCC5 (E601G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134192	NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu)	BIVM-ERCC5, ERCC5 (A627E +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 134196	NM_000123.4(ERCC5):c.2071G>A (p.Gly691Arg)	BIVM-ERCC5, ERCC5 +1 more (G691R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134160	NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)	ERCC5, LOC126861834 +1 more (A761T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 134161	NM_000123.4(ERCC5):c.2458C>T (p.His820Tyr)	BIVM-ERCC5, ERCC5 +1 more (H820Y +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134163	NM_000123.4(ERCC5):c.2542C>T (p.Arg848Trp)	BIVM-ERCC5, ERCC5 (R848W +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134162	NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser)	BIVM-ERCC5, ERCC5 (N879S +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 134164	NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser)	BIVM-ERCC5, ERCC5 (R959S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 134165	NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp)	BIVM-ERCC5, ERCC5 (R964W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134175	NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val)	BIVM-ERCC5, ERCC5 (L999V +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 134170	NM_000123.4(ERCC5):c.3026G>A (p.Arg1009His)	BIVM-ERCC5, ERCC5 (R1009H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 134167	NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)	ERCC5, BIVM-ERCC5 (Q1013R +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 134171	NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr)	BIVM-ERCC5, ERCC5 (A1036T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +3 more	GConflicting classifications of pathogenicity
Select item 134172	NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg)	ERCC5, BIVM-ERCC5 (G1053R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 134173	NM_000123.4(ERCC5):c.3238G>C (p.Gly1080Arg)	ERCC5, BIVM-ERCC5 (G1080R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 134166	NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)	ERCC5, BIVM-ERCC5 (R1080Q +2 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +3 more	GBenign/Likely benign
Select item 129011	NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His)	BIVM-ERCC5, ERCC5 (D1104H +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +3 more	GBenign
Select item 134169	NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)	BIVM-ERCC5, ERCC5 (A1119V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134174	NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr)	BIVM-ERCC5, ERCC5 (A1143T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134168	NM_000123.4(ERCC5):c.3449A>G (p.Asp1150Gly)	BIVM-ERCC5, ERCC5 (D1150G +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 43