ClinVar for Gene (Select 4317) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2642321	NM_002424.3(MMP8):c.929T>C (p.Leu310Pro)	MMP8 (L287P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642320	NM_002424.3(MMP8):c.1041C>T (p.Asn347=)	MMP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529352	NM_002424.3(MMP8):c.1009G>T (p.Asp337Tyr)	MMP8 (D314Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513819	NM_002424.3(MMP8):c.691C>T (p.Pro231Ser)	MMP8 (P231S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484668	NM_002424.3(MMP8):c.1096T>A (p.Ser366Thr)	MMP8 (S366T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464878	NM_002424.3(MMP8):c.530A>G (p.Asn177Ser)	MMP8 (N177S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 2352307	NM_002424.3(MMP8):c.1064A>G (p.Tyr355Cys)	MMP8 (Y332C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330670	NM_002424.3(MMP8):c.908T>C (p.Phe303Ser)	MMP8 (F303S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317205	NM_002424.3(MMP8):c.868A>G (p.Thr290Ala)	MMP8 (T267A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305171	NM_002424.3(MMP8):c.109C>G (p.Leu37Val)	MMP8 (L14V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294068	NM_002424.3(MMP8):c.337T>G (p.Leu113Val)	MMP8 (L113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275994	NM_002424.3(MMP8):c.450G>C (p.Arg150Ser)	MMP8 (R127S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272593	NM_002424.3(MMP8):c.58G>A (p.Ala20Thr)	LOC126861316, MMP8 (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272528	NM_002424.3(MMP8):c.1118G>A (p.Ser373Asn)	MMP8 (S350N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264263	NM_002424.3(MMP8):c.379G>T (p.Ala127Ser)	MMP8 (A104S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259609	NM_002424.3(MMP8):c.980C>T (p.Thr327Ile)	MMP8 (T304I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252755	NM_002424.3(MMP8):c.320A>C (p.Lys107Thr)	MMP8 (K84T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219570	NM_002424.3(MMP8):c.763G>A (p.Asp255Asn)	MMP8 (D232N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2215021	NM_002424.3(MMP8):c.305C>T (p.Thr102Ile)	MMP8 (T102I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213703	NM_002424.3(MMP8):c.874C>T (p.Arg292Cys)	MMP8 (R292C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209182	NM_002424.3(MMP8):c.290G>A (p.Gly97Asp)	MMP8 (G97D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 790652	NM_002424.3(MMP8):c.450G>A (p.Arg150=)	MMP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779313	NM_002424.3(MMP8):c.178G>A (p.Val60Ile)	MMP8 (V60I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779312	NM_002424.3(MMP8):c.1329C>T (p.Tyr443=)	MMP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776654	NM_002424.3(MMP8):c.353G>A (p.Arg118Gln)	MMP8 (R95Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776653	NM_002424.3(MMP8):c.903-3T>C	MMP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774898	NM_002424.3(MMP8):c.241G>A (p.Glu81Lys)	MMP8 (E58K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 744953	NM_002424.3(MMP8):c.651T>C (p.His217=)	MMP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742574	NM_002424.3(MMP8):c.898G>A (p.Asp300Asn)	MMP8 (D300N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726250	NM_002424.3(MMP8):c.78A>G (p.Lys26=)	LOC126861316, MMP8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 724355	NM_002424.3(MMP8):c.785-4C>T	MMP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714053	NM_002424.3(MMP8):c.1387A>G (p.Asn463Asp)	MMP8 (N463D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708208	NM_002424.3(MMP8):c.903-6C>T	MMP8	Single nucleotide variant (intron variant)	not provided	GBenign
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 403101	NM_002424.3(MMP8):c.1348C>T (p.Gln450Ter)	MMP8 (Q450* +1 more)	Single nucleotide variant (nonsense)	not specified	GLikely benign
Select item 403100	NM_002424.3(MMP8):c.95C>T (p.Thr32Ile)	LOC126861316, MMP8 (T32I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 403099	NM_002424.3(MMP8):c.259A>G (p.Lys87Glu)	MMP8 (K87E +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
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 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	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 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
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 17113	MMP8, HAPLOTYPE, TGG	MMP8	Single nucleotide variant	Preterm premature rupture of membranes	GPathogenic

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Links from Gene

Items: 62