17265[HGNC] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 2461029	NM_001375547.2(ABI3BP):c.5240A>T (p.Lys1747Ile)	ABI3BP (K1733I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549141	NM_001375547.2(ABI3BP):c.5132A>G (p.Tyr1711Cys)	ABI3BP (Y1640C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131472	NM_001375547.2(ABI3BP):c.5080A>C (p.Asn1694His)	ABI3BP (N1553H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131468	NM_001375547.2(ABI3BP):c.5002G>A (p.Asp1668Asn)	ABI3BP (D1597N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621643	NM_001375547.2(ABI3BP):c.4939A>G (p.Arg1647Gly)	ABI3BP (R1398G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131467	NM_001375547.2(ABI3BP):c.4624G>T (p.Gly1542Trp)	ABI3BP (G1471W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596561	NM_001375547.2(ABI3BP):c.4591G>A (p.Val1531Ile)	ABI3BP (V1089I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310942	NM_001375547.2(ABI3BP):c.4527C>A (p.Phe1509Leu)	ABI3BP (F1495L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327406	NM_001375547.2(ABI3BP):c.4520C>T (p.Pro1507Leu)	ABI3BP (P1436L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331947	NM_001375547.2(ABI3BP):c.4374G>T (p.Arg1458Ser)	ABI3BP (R1442S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560968	NM_001375547.2(ABI3BP):c.4250G>A (p.Arg1417His)	ABI3BP (R1168H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324498	NM_001375547.2(ABI3BP):c.4229C>T (p.Thr1410Ile)	ABI3BP (T1161I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131449	NM_001375547.2(ABI3BP):c.4189G>C (p.Gly1397Arg)	ABI3BP (G1148R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273796	NM_001375547.2(ABI3BP):c.4166T>A (p.Val1389Asp)	ABI3BP (V947D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540879	NM_001375547.2(ABI3BP):c.4040A>G (p.Tyr1347Cys)	ABI3BP (Y1123C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607579	NM_001375547.2(ABI3BP):c.4034G>T (p.Arg1345Ile)	ABI3BP (R1274I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381815	NM_001375547.2(ABI3BP):c.4025C>T (p.Ala1342Val)	ABI3BP (A1328V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297361	NM_001375547.2(ABI3BP):c.3977T>C (p.Phe1326Ser)	ABI3BP (F1255S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262889	NM_001375547.2(ABI3BP):c.3971A>G (p.Glu1324Gly)	ABI3BP (E1183G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324237	NM_001375547.2(ABI3BP):c.3904A>C (p.Ile1302Leu)	ABI3BP (I1078L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131422	NM_001375547.2(ABI3BP):c.3874G>A (p.Glu1292Lys)	ABI3BP (E1068K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286779	NM_001375547.2(ABI3BP):c.3797A>G (p.Glu1266Gly)	ABI3BP (E1058G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369074	NM_001375547.2(ABI3BP):c.3769G>C (p.Val1257Leu)	ABI3BP (V1116L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131405	NM_001375547.2(ABI3BP):c.3680C>A (p.Pro1227Gln)	ABI3BP (P1019Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517562	NM_001375547.2(ABI3BP):c.3656G>A (p.Arg1219His)	ABI3BP (R1148H +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131398	NM_001375547.2(ABI3BP):c.3626G>A (p.Arg1209His)	ABI3BP (R1001H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155079	GRCh38/hg38 3q12.2-12.3(chr3:100828503-101465000)x1	ABI3BP, IMPG2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2384152	NM_001375547.2(ABI3BP):c.1646C>T (p.Pro549Leu)	ABI3BP (P525L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545871	NM_001375547.2(ABI3BP):c.1642A>G (p.Thr548Ala)	ABI3BP (T427A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131391	NM_001375547.2(ABI3BP):c.1565G>A (p.Arg522Lys)	ABI3BP (R498K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457743	NM_001375547.2(ABI3BP):c.1549C>T (p.Arg517Trp)	ABI3BP (R446W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324075	NM_001375547.2(ABI3BP):c.1514C>T (p.Thr505Ile)	ABI3BP (T434I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654005	NM_001375547.2(ABI3BP):c.1494G>A (p.Thr498=)	ABI3BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3131387	NM_001375547.2(ABI3BP):c.1420A>C (p.Thr474Pro)	ABI3BP (T425P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131382	NM_001375547.2(ABI3BP):c.1402C>T (p.Leu468Phe)	ABI3BP (L397F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204687	NM_001375547.2(ABI3BP):c.1253C>T (p.Ser418Phe)	ABI3BP (S394F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324147	NM_001375547.2(ABI3BP):c.1028C>T (p.Thr343Met)	ABI3BP (T343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618501	NM_001375547.2(ABI3BP):c.1010G>A (p.Arg337Lys)	ABI3BP (R337K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494369	NM_001375547.2(ABI3BP):c.976C>G (p.Arg326Gly)	ABI3BP (R326G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208439	NM_001375547.2(ABI3BP):c.959T>C (p.Val320Ala)	ABI3BP (V320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131535	NM_001375547.2(ABI3BP):c.934C>G (p.Pro312Ala)	ABI3BP (P312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131533	NM_001375547.2(ABI3BP):c.926T>G (p.Leu309Trp)	ABI3BP (L309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521883	NM_001375547.2(ABI3BP):c.904C>G (p.Gln302Glu)	ABI3BP (Q302E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131527	NM_001375547.2(ABI3BP):c.865G>A (p.Ala289Thr)	ABI3BP (A289T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324327	NM_001375547.2(ABI3BP):c.841A>G (p.Asn281Asp)	ABI3BP (N281D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319105	NM_001375547.2(ABI3BP):c.835G>T (p.Gly279Cys)	ABI3BP (G279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387611	NM_001375547.2(ABI3BP):c.826A>G (p.Ile276Val)	ABI3BP (I276V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294611	NM_001375547.2(ABI3BP):c.796C>T (p.Pro266Ser)	ABI3BP (P266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536130	NM_001375547.2(ABI3BP):c.765C>G (p.His255Gln)	ABI3BP (H255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513963	NM_001375547.2(ABI3BP):c.761C>T (p.Thr254Ile)	ABI3BP (T254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393514	NM_001375547.2(ABI3BP):c.715A>G (p.Lys239Glu)	ABI3BP (K239E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569192	NM_001375547.2(ABI3BP):c.701C>T (p.Ala234Val)	ABI3BP (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616461	NM_001375547.2(ABI3BP):c.694G>A (p.Val232Met)	ABI3BP (V232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311877	NM_001375547.2(ABI3BP):c.685G>T (p.Asp229Tyr)	ABI3BP (D229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131498	NM_001375547.2(ABI3BP):c.677A>G (p.Tyr226Cys)	ABI3BP (Y226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131492	NM_001375547.2(ABI3BP):c.670A>G (p.Ser224Gly)	ABI3BP (S224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299206	NM_001375547.2(ABI3BP):c.631A>G (p.Thr211Ala)	ABI3BP (T211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235342	NM_001375547.2(ABI3BP):c.585A>T (p.Lys195Asn)	ABI3BP (K195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293140	NM_001375547.2(ABI3BP):c.368G>A (p.Gly123Asp)	ABI3BP (G123D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361611	NM_001375547.2(ABI3BP):c.338G>A (p.Arg113His)	ABI3BP (R113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131466	NM_001375547.2(ABI3BP):c.221C>G (p.Pro74Arg)	ABI3BP (P74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596569	NM_001375547.2(ABI3BP):c.214T>C (p.Tyr72His)	ABI3BP (Y72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386202	NM_001375547.2(ABI3BP):c.164A>G (p.Lys55Arg)	ABI3BP (K55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131417	NM_001375547.2(ABI3BP):c.159T>A (p.Asn53Lys)	ABI3BP (N53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324404	NM_001375547.2(ABI3BP):c.158A>G (p.Asn53Ser)	ABI3BP (N53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496243	NM_001375547.2(ABI3BP):c.130C>A (p.Leu44Ile)	ABI3BP (L44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151879	GRCh38/hg38 3q12.2(chr3:100951572-101083124)x1	ABI3BP, LOC123002321	Copy number loss	See cases	GLikely benign
Select item 2619022	NM_001375547.2(ABI3BP):c.64C>G (p.Gln22Glu)	ABI3BP (Q22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131507	NM_001375547.2(ABI3BP):c.56G>A (p.Gly19Glu)	ABI3BP (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508277	NM_001375547.2(ABI3BP):c.32G>A (p.Cys11Tyr)	ABI3BP (C11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	COL8A1, FILIP1L +16 more	Deletion	not provided	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 82