ClinVar for Gene (Select 4319) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150520	NM_002425.3(MMP10):c.889G>A (p.Ala297Thr)	MMP10 (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150490	NM_002425.3(MMP10):c.823C>G (p.Pro275Ala)	MMP10 (P275A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150416	NM_002425.3(MMP10):c.773T>G (p.Ile258Ser)	MMP10 (I258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150340	NM_002425.3(MMP10):c.664T>C (p.Ser222Pro)	MMP10 (S222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150232	NM_002425.3(MMP10):c.529G>A (p.Gly177Arg)	MMP10 (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150163	NM_002425.3(MMP10):c.503G>A (p.Gly168Glu)	MMP10 (G168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150132	NM_002425.3(MMP10):c.481T>G (p.Ser161Ala)	MMP10 (S161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150092	NM_002425.3(MMP10):c.473T>C (p.Ile158Thr)	MMP10 (I158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150063	NM_002425.3(MMP10):c.436C>T (p.Leu146Phe)	MMP10 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149875	NM_002425.3(MMP10):c.377G>A (p.Arg126Lys)	MMP10 (R126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149725	NM_002425.3(MMP10):c.1343T>C (p.Phe448Ser)	MMP10 (F448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149618	NM_002425.3(MMP10):c.1147A>G (p.Thr383Ala)	MMP10 (T383A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149581	NM_002425.3(MMP10):c.1130C>T (p.Thr377Ile)	MMP10 (T377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2642323	NM_002425.3(MMP10):c.497-2A>G	MMP10	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 2642322	NM_002425.3(MMP10):c.1168G>T (p.Ala390Ser)	MMP10 (A390S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602498	NM_002425.3(MMP10):c.397A>G (p.Ile133Val)	MMP10 (I133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564625	NM_002425.3(MMP10):c.1389G>A (p.Met463Ile)	MMP10 (M463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553846	NM_002425.3(MMP10):c.139G>A (p.Asp47Asn)	MMP10 (D47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549822	NM_002425.3(MMP10):c.598G>A (p.Glu200Lys)	MMP10 (E200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516665	NM_002425.3(MMP10):c.762T>A (p.Asp254Glu)	MMP10 (D254E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492241	NM_002425.3(MMP10):c.125A>G (p.Tyr42Cys)	MMP10 (Y42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 2404187	NM_002425.3(MMP10):c.400G>A (p.Glu134Lys)	MMP10 (E134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385143	NM_002425.3(MMP10):c.398T>C (p.Ile133Thr)	MMP10 (I133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379302	NM_002425.3(MMP10):c.1052T>C (p.Val351Ala)	MMP10 (V351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376804	NM_002425.3(MMP10):c.367G>A (p.Asp123Asn)	MMP10 (D123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371138	NM_002425.3(MMP10):c.509T>C (p.Phe170Ser)	MMP10 (F170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348631	NM_002425.3(MMP10):c.578A>G (p.Asp193Gly)	MMP10 (D193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322092	NM_002425.3(MMP10):c.298A>G (p.Ser100Gly)	MMP10 (S100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307819	NM_002425.3(MMP10):c.797C>T (p.Pro266Leu)	MMP10 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270391	NM_002425.3(MMP10):c.53A>G (p.Tyr18Cys)	MMP10 (Y18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232131	NM_002425.3(MMP10):c.1329T>G (p.Phe443Leu)	MMP10 (F443L)	Single nucleotide variant (missense variant)	not specified	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 1317643	NM_002425.3(MMP10):c.1200C>A (p.Tyr400Ter)	MMP10 (Y400*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1244144	NM_002425.3(MMP10):c.10C>G (p.Leu4Val)	MMP10 (L4V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1184864	NM_002425.3(MMP10):c.32_33del (p.Cys11fs)	MMP10 (C11fs)	Microsatellite (frameshift variant)	Essential tremor	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	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 765622	NM_002425.3(MMP10):c.816C>T (p.Pro272=)	MMP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732348	NM_002425.3(MMP10):c.948A>G (p.Arg316=)	MMP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716320	NM_002425.3(MMP10):c.314T>A (p.Met105Lys)	MMP10 (M105K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 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
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +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	LOC132089949, LOC132089950 +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

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Links from Gene

Items: 63