16790[HGNC] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 57817	GRCh38/hg38 1q25.3(chr1:183828804-184670837)x3	C1orf21, C1orf21-DT +21 more	Copy number gain	See cases	GUncertain significance
Select item 146665	GRCh38/hg38 1q25.3(chr1:183892070-184122138)x3	COLGALT2, LOC111501763 +10 more	Copy number gain	See cases	GBenign
Select item 2242051	NM_015101.4(COLGALT2):c.1852G>A (p.Asp618Asn)	COLGALT2 (D618N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147895	NM_015101.4(COLGALT2):c.1808G>A (p.Ser603Asn)	COLGALT2 (S603N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230935	NM_015101.4(COLGALT2):c.1787G>A (p.Arg596Gln)	COLGALT2 (R476Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386908	NM_015101.4(COLGALT2):c.1756G>A (p.Asp586Asn)	COLGALT2 (D466N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343421	NM_015101.4(COLGALT2):c.1750G>A (p.Ala584Thr)	COLGALT2 (A584T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147894	NM_015101.4(COLGALT2):c.1735G>A (p.Asp579Asn)	COLGALT2 (D459N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618085	NM_015101.4(COLGALT2):c.1732T>C (p.Trp578Arg)	COLGALT2 (W458R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147893	NM_015101.4(COLGALT2):c.1661C>A (p.Pro554His)	COLGALT2 (P434H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147892	NM_015101.4(COLGALT2):c.1628A>G (p.Glu543Gly)	COLGALT2 (E423G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349386	NM_015101.4(COLGALT2):c.1609G>A (p.Glu537Lys)	COLGALT2 (E417K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515825	NM_015101.4(COLGALT2):c.1603G>A (p.Val535Ile)	COLGALT2 (V415I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356440	NM_015101.4(COLGALT2):c.1586T>C (p.Met529Thr)	COLGALT2 (M409T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147891	NM_015101.4(COLGALT2):c.1523A>G (p.Gln508Arg)	COLGALT2 (Q388R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455154	NM_015101.4(COLGALT2):c.1474G>A (p.Asp492Asn)	COLGALT2 (D492N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340302	NM_015101.4(COLGALT2):c.1408A>G (p.Arg470Gly)	COLGALT2 (R470G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509169	NM_015101.4(COLGALT2):c.1319G>A (p.Arg440His)	COLGALT2 (R320H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147890	NM_015101.4(COLGALT2):c.1291A>C (p.Lys431Gln)	COLGALT2 (K431Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147889	NM_015101.4(COLGALT2):c.1279C>G (p.Arg427Gly)	COLGALT2 (R427G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600112	NM_015101.4(COLGALT2):c.1278T>A (p.Asp426Glu)	COLGALT2 (D426E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147887	NM_015101.4(COLGALT2):c.1252T>C (p.Tyr418His)	COLGALT2 (Y298H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343803	NM_015101.4(COLGALT2):c.1208C>T (p.Ser403Phe)	COLGALT2 (S403F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549029	NM_015101.4(COLGALT2):c.1195G>A (p.Asp399Asn)	COLGALT2 (D279N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490658	NM_015101.4(COLGALT2):c.1115T>A (p.Ile372Asn)	COLGALT2 (I252N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613012	NM_015101.4(COLGALT2):c.994G>T (p.Val332Phe)	COLGALT2 (V212F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147902	NM_015101.4(COLGALT2):c.872A>G (p.Tyr291Cys)	COLGALT2 (Y171C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147901	NM_015101.4(COLGALT2):c.859G>C (p.Glu287Gln)	COLGALT2 (E287Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524587	NM_015101.4(COLGALT2):c.812C>T (p.Ala271Val)	COLGALT2 (A271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147900	NM_015101.4(COLGALT2):c.808T>C (p.Phe270Leu)	COLGALT2 (F150L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353781	NM_015101.4(COLGALT2):c.788C>T (p.Thr263Ile)	COLGALT2 (T143I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336384	NM_015101.4(COLGALT2):c.779A>G (p.Tyr260Cys)	COLGALT2 (Y260C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531352	NM_015101.4(COLGALT2):c.767C>G (p.Pro256Arg)	COLGALT2 (P136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487281	NM_015101.4(COLGALT2):c.697C>G (p.Pro233Ala)	COLGALT2 (P113A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373822	NM_015101.4(COLGALT2):c.683G>C (p.Gly228Ala)	COLGALT2 (G108A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361201	NM_015101.4(COLGALT2):c.680C>T (p.Thr227Ile)	COLGALT2 (T107I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246597	NM_015101.4(COLGALT2):c.670T>C (p.Trp224Arg)	COLGALT2 (W224R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235054	NM_015101.4(COLGALT2):c.655G>A (p.Val219Ile)	COLGALT2 (V219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147899	NM_015101.4(COLGALT2):c.575T>G (p.Met192Arg)	COLGALT2 (M72R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207493	NM_015101.4(COLGALT2):c.563T>C (p.Ile188Thr)	COLGALT2 (I68T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356111	NM_015101.4(COLGALT2):c.539T>C (p.Leu180Pro)	COLGALT2 (L180P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147898	NM_015101.4(COLGALT2):c.461C>A (p.Thr154Asn)	COLGALT2 (T154N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302432	NM_015101.4(COLGALT2):c.440T>C (p.Leu147Pro)	COLGALT2 (L147P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270260	NM_015101.4(COLGALT2):c.425C>T (p.Ala142Val)	COLGALT2 (A22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260521	NM_015101.4(COLGALT2):c.404A>G (p.His135Arg)	COLGALT2 (H135R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536138	NM_015101.4(COLGALT2):c.392T>C (p.Ile131Thr)	COLGALT2 (I131T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147897	NM_015101.4(COLGALT2):c.388G>A (p.Glu130Lys)	COLGALT2 (E130K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147896	NM_015101.4(COLGALT2):c.217G>T (p.Gly73Cys)	COLGALT2 (G73C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292501	NM_015101.4(COLGALT2):c.208C>T (p.His70Tyr)	COLGALT2 (H70Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313155	NM_015101.4(COLGALT2):c.149T>G (p.Leu50Arg)	COLGALT2 (L50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607518	NM_015101.4(COLGALT2):c.118G>C (p.Glu40Gln)	COLGALT2 (E40Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605431	NM_015101.4(COLGALT2):c.41T>A (p.Leu14Gln)	COLGALT2 (L14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513533	NM_015101.4(COLGALT2):c.19G>T (p.Ala7Ser)	COLGALT2 (A7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979312	GRCh37/hg19 1q25.3(chr1:183917739-184192431)x3	TSEN15, COLGALT2	Copy number gain	not provided	GUncertain significance
Select item 814148	GRCh37/hg19 1q25.3(chr1:183908612-183981164)x1	COLGALT2	Copy number loss	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565205	GRCh37/hg19 1q25.3(chr1:183827844-184317756)x3	COLGALT2, RGL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 80