7155[HGNC] - ClinVar

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Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	ANGPTL5, ARHGAP42 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 1267876	NM_002421.4(MMP1):c.*269C>T	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1255299	NM_002421.4(MMP1):c.*184T>C	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1233849	NM_002421.4(MMP1):c.*63C>T	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245928	NM_002421.4(MMP1):c.*44A>G	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2267581	NM_002421.4(MMP1):c.1401G>T (p.Arg467Ser)	MMP1 (R401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684890	NM_002421.4(MMP1):c.1389G>A (p.Trp463Ter)	MMP1 (W397* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1260456	NM_002421.4(MMP1):c.1301-24A>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782871	NM_002421.4(MMP1):c.1299T>C (p.Asp433=)	MMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712084	NM_002421.4(MMP1):c.1216T>A (p.Ser406Thr)	MMP1 (S340T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1182135	NM_002421.4(MMP1):c.1197-58T>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283938	NM_002421.4(MMP1):c.1197-128C>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260475	NM_002421.4(MMP1):c.1197-220C>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288820	NM_002421.4(MMP1):c.1196+251C>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2308698	NM_002421.4(MMP1):c.1172T>G (p.Phe391Cys)	MMP1 (F391C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286182	NM_002421.4(MMP1):c.1129A>G (p.Ile377Val)	MMP1 (I311V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768478	NM_002421.4(MMP1):c.1120G>A (p.Val374Met)	MMP1 (V374M +1 more)	Single nucleotide variant (missense variant)	MMP1-related condition +1 more	GBenign/Likely benign
Select item 2466014	NM_002421.4(MMP1):c.1037A>C (p.Asn346Thr)	MMP1 (N280T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053074	NM_002421.4(MMP1):c.1034-4G>A	MMP1	Single nucleotide variant (intron variant)	MMP1-related condition	GLikely benign
Select item 1273339	NM_002421.4(MMP1):c.1034-240A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2529456	NM_002421.4(MMP1):c.1006G>A (p.Asp336Asn)	MMP1 (D270N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603274	NM_002421.4(MMP1):c.997G>A (p.Glu333Lys)	MMP1 (E333K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736152	NM_002421.4(MMP1):c.996C>T (p.Tyr332=)	MMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559535	NM_002421.4(MMP1):c.988del (p.Ala330fs)	MMP1 (A264fs +1 more)	Deletion (frameshift variant)	Interstitial lung disease 2	GUncertain significance
Select item 2225587	NM_002421.4(MMP1):c.913A>G (p.Thr305Ala)	MMP1 (T305A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617287	NM_002421.4(MMP1):c.910C>A (p.Arg304Ser)	MMP1 (R304S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403089	NM_002421.4(MMP1):c.900-8dup	MMP1	Duplication (intron variant)	not specified	GBenign
Select item 403090	NM_002421.4(MMP1):c.900-13T>A	MMP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1293714	NM_002421.4(MMP1):c.900-34A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175389	NM_002421.4(MMP1):c.900-239A>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234842	NM_002421.4(MMP1):c.899+236A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280205	NM_002421.4(MMP1):c.899+221T>A	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2602762	NM_002421.4(MMP1):c.865A>G (p.Thr289Ala)	MMP1 (T289A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 403091	NM_002421.4(MMP1):c.831G>A (p.Ala277=)	MMP1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2594134	NM_002421.4(MMP1):c.830C>T (p.Ala277Val)	MMP1 (A277V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3044498	NM_002421.4(MMP1):c.784C>A (p.Arg262Ser)	MMP1 (R196S +1 more)	Single nucleotide variant (missense variant)	MMP1-related condition	GLikely benign
Select item 1264388	NM_002421.4(MMP1):c.782-15T>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281805	NM_002421.4(MMP1):c.782-21T>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288920	NM_002421.4(MMP1):c.781+19A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035992	NM_002421.4(MMP1):c.781+7A>G	MMP1	Single nucleotide variant (intron variant)	MMP1-related condition	GLikely benign
Select item 2591245	NM_002421.4(MMP1):c.707T>C (p.Met236Thr)	MMP1 (M236T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464717	NM_002421.4(MMP1):c.707T>A (p.Met236Lys)	MMP1 (M170K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606947	NM_002421.4(MMP1):c.682C>A (p.His228Asn)	MMP1 (H162N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312382	NM_002421.4(MMP1):c.680C>T (p.Ser227Phe)	MMP1 (S227F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374712	NM_002421.4(MMP1):c.661G>A (p.Gly221Ser)	MMP1 (G155S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403092	NM_002421.4(MMP1):c.648A>G (p.Ala216=)	MMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1278000	NM_002421.4(MMP1):c.626-219G>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224129	NM_002421.4(MMP1):c.626-317C>A	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269770	NM_002421.4(MMP1):c.625+332G>A	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2269113	NM_002421.4(MMP1):c.611C>T (p.Thr204Ile)	MMP1 (T204I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642324	NM_002421.4(MMP1):c.573del (p.Ile191fs)	MMP1 (I125fs +1 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 788566	NM_002421.4(MMP1):c.571A>G (p.Ile191Val)	MMP1 (I125V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2475519	NM_002421.4(MMP1):c.385G>T (p.Asp129Tyr)	MMP1 (D129Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748835	NM_002421.4(MMP1):c.365C>T (p.Thr122Met)	MMP1 (T122M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 745742	NM_002421.4(MMP1):c.350+4G>A	MMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403093	NM_002421.4(MMP1):c.315G>A (p.Gly105=)	MMP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2596787	NM_002421.4(MMP1):c.308C>T (p.Thr103Ile)	MMP1 (T37I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719395	NM_002421.4(MMP1):c.248C>A (p.Thr83Asn)	MMP1 (T83N +1 more)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +3 more	GLikely benign
Select item 2358915	NM_002421.4(MMP1):c.226A>C (p.Thr76Pro)	MMP1 (T76P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619933	NM_002421.4(MMP1):c.196C>G (p.Gln66Glu)	MMP1 (Q66E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365421	NM_002421.4(MMP1):c.178G>C (p.Val60Leu)	MMP1 (V60L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1244112	NM_002421.4(MMP1):c.105+114_105+115del	MMP1	Deletion (intron variant)	not provided	GBenign
Select item 802715	NM_002421.4(MMP1):c.105+115del	MMP1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1230613	NM_002421.4(MMP1):c.105+33A>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286243	NM_002421.4(MMP1):c.105+32A>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235418	NM_002421.4(MMP1):c.105+17A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2305765	NM_002421.4(MMP1):c.92T>G (p.Val31Gly)	MMP1 (V31G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511237	NM_002421.4(MMP1):c.65C>T (p.Ala22Val)	MMP1 (A22V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 764919	NM_002421.4(MMP1):c.33G>A (p.Leu11=)	MMP1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1282380	NM_002421.4(MMP1):c.-59C>T	MMP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1236601	NC_000011.10:g.102798479A>G	MMP1	Single nucleotide variant	not provided	GBenign
Select item 1266190	NC_000011.10:g.102798499A>G	MMP1	Single nucleotide variant	not provided	GBenign
Select item 1229767	NC_000011.10:g.102798678T>C	MMP1	Single nucleotide variant	not provided	GBenign
Select item 17114	NM_002421.3(MMP1):c.-1673G=	MMP1	Single nucleotide variant	Pulmonary disease, chronic obstructive, rate of decline of lung function in	GPathogenic
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527667	GRCh37/hg19 11q22.2(chr11:102308740-102676879)	LOC100128088, MMP1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 394069	GRCh37/hg19 11q22.2(chr11:102642841-102826187)x1	MMP1, MMP10 +3 more	Copy number loss	See cases	GUncertain significance

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Items: 99