LOC130058543[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 1253478	NC_000016.10:g.13920136T>A	ERCC4, LOC130058543	Single nucleotide variant	not provided	GBenign
Select item 661743	NC_000016.10:g.(?_13920156)_(13948357_?)del	ERCC4, LOC130058543 +1 more	Deletion	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 2444864	NM_005236.3(ERCC4):c.1A>G (p.Met1Val)	ERCC4, LOC130058543 (M1V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group Q	GUncertain significance
Select item 2059946	NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)	ERCC4, LOC130058543 (M1R)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1316477	NM_005236.3(ERCC4):c.2T>C (p.Met1Thr)	ERCC4, LOC130058543 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 947999	NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)	ERCC4, LOC130058543 (E2Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 291093	NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)	ERCC4, LOC130058543 (S3L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2924207	NM_005236.3(ERCC4):c.9A>C (p.Ser3=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 887968	NM_005236.3(ERCC4):c.12G>A (p.Gly4=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 1146380	NM_005236.3(ERCC4):c.15G>A (p.Gln5=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 134131	NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)	ERCC4, LOC130058543 (P6S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 998306	NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu)	ERCC4, LOC130058543 (P6L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q	GUncertain significance
Select item 568412	NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)	ERCC4, LOC130058543 (A7T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2096889	NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)	ERCC4, LOC130058543 (A7V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1585300	NM_005236.3(ERCC4):c.22C>A (p.Arg8=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 1075759	NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)	ERCC4, LOC130058543 (R8*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group Q +2 more	GPathogenic
Select item 1943267	NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)	ERCC4, LOC130058543 (R9G)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 854210	NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)	ERCC4, LOC130058543 (R9P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 948829	NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)	ERCC4, LOC130058543 (A11V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 240125	NM_005236.3(ERCC4):c.33C>T (p.Ala11=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +4 more	GBenign/Likely benign
Select item 2144285	NM_005236.3(ERCC4):c.34A>G (p.Met12Val)	ERCC4, LOC130058543 (M12V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 1319877	NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr)	ERCC4, LOC130058543 (A13T)	Single nucleotide variant (missense variant)	Behavioral variant of frontotemporal dementia +4 more	GUncertain significance
Select item 852000	NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)	ERCC4, LOC130058543 (A13S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 408565	NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu)	ERCC4, LOC130058543 (P14L)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 317796	NM_005236.3(ERCC4):c.41C>G (p.Pro14Arg)	ERCC4, LOC130058543 (P14R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 1092737	NM_005236.3(ERCC4):c.42G>A (p.Pro14=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 2923341	NM_005236.3(ERCC4):c.43C>T (p.Leu15=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 3065023	NM_005236.3(ERCC4):c.55G>A (p.Glu19Lys)	ERCC4, LOC130058543 (E19K)	Single nucleotide variant (missense variant)	XFE progeroid syndrome	GUncertain significance
Select item 1452810	NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)	ERCC4, LOC130058543 (R20*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group Q +2 more	GPathogenic
Select item 317797	NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)	ERCC4, LOC130058543 (Q21E)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2151562	NM_005236.3(ERCC4):c.68del (p.Val23fs)	ERCC4, LOC130058543 (V23fs)	Deletion (frameshift variant)	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 1654960	NM_005236.3(ERCC4):c.69G>A (p.Val23=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 2943096	NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)	ERCC4, LOC130058543 (E25Q)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 134132	NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)	ERCC4, LOC130058543 (L27F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +4 more	GUncertain significance
Select item 2927145	NM_005236.3(ERCC4):c.81C>T (p.Leu27=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2922884	NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)	ERCC4, LOC130058543 (D28G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 1337224	NM_005236.3(ERCC4):c.86C>T (p.Thr29Ile)	ERCC4, LOC130058543 (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 235449	NM_005236.3(ERCC4):c.89A>C (p.Asp30Ala)	ERCC4, LOC130058543 (D30A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2948044	NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)	ERCC4, LOC130058543 (D30E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2337192	NM_005236.3(ERCC4):c.91G>C (p.Gly31Arg)	ERCC4, LOC130058543 (G31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076382	NM_005236.3(ERCC4):c.96A>G (p.Leu32=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 1692887	NM_005236.3(ERCC4):c.98T>C (p.Val33Ala)	ERCC4, LOC130058543 (V33A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 2445325	NM_005236.3(ERCC4):c.100G>A (p.Val34Met)	ERCC4, LOC130058543 (V34M)	Single nucleotide variant (missense variant)	Cockayne syndrome +3 more	GConflicting classifications of pathogenicity
Select item 317798	NM_005236.3(ERCC4):c.105C>T (p.Cys35=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GConflicting classifications of pathogenicity
Select item 1921062	NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)	ERCC4, LOC130058543 (A36P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 860287	NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)	ERCC4, LOC130058543 (R37C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 2167700	NM_005236.3(ERCC4):c.114G>A (p.Gly38=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 3065024	NM_005236.3(ERCC4):c.118G>C (p.Gly40Arg)	ERCC4, LOC130058543 (G40R)	Single nucleotide variant (missense variant)	XFE progeroid syndrome	GUncertain significance
Select item 933259	NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)	ERCC4, LOC130058543 (A41G)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1045245	NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)	ERCC4, LOC130058543 (D42N)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1414944	NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)	ERCC4, LOC130058543 (D42G)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1327065	NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp)	ERCC4, LOC130058543 (R43W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q	GUncertain significance
Select item 2935343	NM_005236.3(ERCC4):c.129G>A (p.Arg43=)	LOC130058543, ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 1002097	NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)	ERCC4, LOC130058543 (L44F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1107762	NM_005236.3(ERCC4):c.132C>T (p.Leu44=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 1428675	NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys)	ERCC4, LOC130058543 (Y46C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1381433	NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr)	ERCC4, LOC130058543 (F48Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 884829	NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)	ERCC4, LOC130058543 (L49F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +5 more	GUncertain significance
Select item 2949226	NM_005236.3(ERCC4):c.147C>T (p.Leu49=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2932701	NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)	ERCC4, LOC130058543 (Q50*)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 2922768	NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)	ERCC4, LOC130058543 (L51R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2930775	NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)	ERCC4, LOC130058543 (C53Y)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2941781	NM_005236.3(ERCC4):c.165A>G (p.Pro55=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 2087833	NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)	ERCC4, LOC130058543 (A56V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 3342224	NM_005236.3(ERCC4):c.170G>C (p.Cys57Ser)	ERCC4, LOC130058543 (C57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134133	NM_005236.3(ERCC4):c.176T>A (p.Val59Glu)	ERCC4, LOC130058543 (V59E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 1584541	NM_005236.3(ERCC4):c.178C>T (p.Leu60=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 1641367	NM_005236.3(ERCC4):c.183G>A (p.Val61=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 1696267	NM_005236.3(ERCC4):c.187A>C (p.Asn63His)	ERCC4, LOC130058543 (N63H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2944222	NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)	LOC130058543, ERCC4 (T64S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance

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Items: 74