ClinVar for Gene (Select 203102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145711	NM_145004.7(ADAM32):c.872C>T (p.Pro291Leu)	ADAM32 (P291L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145706	NM_145004.7(ADAM32):c.85G>A (p.Val29Ile)	ADAM32 (V29I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145678	NM_145004.7(ADAM32):c.580G>A (p.Val194Met)	ADAM32 (V194M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145673	NM_145004.7(ADAM32):c.578T>C (p.Val193Ala)	ADAM32 (V193A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145658	NM_145004.7(ADAM32):c.2324A>T (p.Lys775Ile)	ADAM32 (K775I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145652	NM_145004.7(ADAM32):c.20T>C (p.Leu7Pro)	ADAM32 (C41R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145638	NM_145004.7(ADAM32):c.1996G>C (p.Glu666Gln)	ADAM32 (E567Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145635	NM_145004.7(ADAM32):c.1985T>C (p.Ile662Thr)	ADAM32 (I563T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145627	NM_145004.7(ADAM32):c.1897C>T (p.His633Tyr)	ADAM32 (H633Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145614	NM_145004.7(ADAM32):c.1766C>G (p.Thr589Arg)	ADAM32 (T589R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145607	NM_145004.7(ADAM32):c.1656A>C (p.Leu552Phe)	ADAM32 (L552F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145587	NM_145004.7(ADAM32):c.1441C>T (p.Leu481Phe)	ADAM32 (L481F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145580	NM_145004.7(ADAM32):c.1342G>T (p.Val448Phe)	ADAM32 (V349F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145561	NM_145004.7(ADAM32):c.1130A>G (p.Lys377Arg)	ADAM32 (K377R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3067238	NM_145004.6(ADAM32):c.-69_-62CGCGTCCC[3]	ADAM32 (W17fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2659006	GRCh37/hg19 8p11.22-11.21(chr8:38602986-41615655)x1	ADAM18, ADAM2 +16 more	Copy number loss	not provided	GPathogenic
Select item 2658564	NM_145004.7(ADAM32):c.1074T>A (p.Thr358=)	ADAM32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658563	NM_145004.7(ADAM32):c.186G>A (p.Val62=)	ADAM32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620754	NM_145004.7(ADAM32):c.1532G>A (p.Arg511Lys)	ADAM32 (R511K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604602	NM_145004.7(ADAM32):c.1174C>G (p.Pro392Ala)	ADAM32 (P392A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594142	NM_145004.7(ADAM32):c.1363C>T (p.His455Tyr)	ADAM32 (H455Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593906	NM_145004.7(ADAM32):c.149C>G (p.Ser50Cys)	ADAM32 (S57C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589325	NM_145004.7(ADAM32):c.2280A>G (p.Lys760=)	ADAM32	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2569388	NM_145004.7(ADAM32):c.1342G>A (p.Val448Ile)	ADAM32 (V349I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548359	NM_145004.7(ADAM32):c.987A>G (p.Ile329Met)	ADAM32 (I329M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546913	NM_145004.7(ADAM32):c.1502G>A (p.Arg501His)	ADAM32 (R501H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531272	NM_145004.7(ADAM32):c.1226C>T (p.Thr409Ile)	ADAM32 (T409I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529368	NM_145004.7(ADAM32):c.460G>A (p.Ala154Thr)	ADAM32 (A161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528873	NM_145004.7(ADAM32):c.1085G>A (p.Cys362Tyr)	ADAM32 (C362Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488339	NM_145004.7(ADAM32):c.826C>A (p.Leu276Ile)	ADAM32 (L276I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477033	NM_145004.7(ADAM32):c.629C>G (p.Thr210Arg)	ADAM32 (T210R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468892	NM_145004.7(ADAM32):c.1984A>G (p.Ile662Val)	ADAM32 (I662V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455962	NM_145004.7(ADAM32):c.637G>A (p.Val213Ile)	ADAM32 (V220I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390794	NM_145004.7(ADAM32):c.1811T>C (p.Ile604Thr)	ADAM32 (I604T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379560	NM_145004.7(ADAM32):c.1720G>A (p.Val574Ile)	ADAM32 (V475I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367555	NM_145004.7(ADAM32):c.1952C>A (p.Pro651Gln)	ADAM32 (P552Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352733	NM_145004.7(ADAM32):c.1316A>G (p.Lys439Arg)	ADAM32 (K340R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345030	NM_145004.7(ADAM32):c.1862C>T (p.Ala621Val)	ADAM32 (A522V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339080	NM_145004.7(ADAM32):c.1703A>G (p.Asp568Gly)	ADAM32 (D568G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335003	NM_145004.7(ADAM32):c.593T>C (p.Leu198Ser)	ADAM32 (L198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311894	NM_145004.7(ADAM32):c.2077A>G (p.Ile693Val)	ADAM32 (I594V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307911	NM_145004.7(ADAM32):c.562C>A (p.Leu188Ile)	ADAM32 (L195I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288706	NM_145004.7(ADAM32):c.893G>A (p.Arg298His)	ADAM32 (R298H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286780	NM_145004.7(ADAM32):c.1789A>G (p.Lys597Glu)	ADAM32 (K498E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286003	NM_145004.7(ADAM32):c.1541C>T (p.Pro514Leu)	ADAM32 (P514L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265736	NM_145004.7(ADAM32):c.2161G>A (p.Glu721Lys)	ADAM32 (E721K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264798	NM_145004.7(ADAM32):c.358A>G (p.Ile120Val)	ADAM32 (I120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243629	NM_145004.7(ADAM32):c.644A>T (p.Glu215Val)	ADAM32 (E215V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222981	NM_145004.7(ADAM32):c.2095G>A (p.Ala699Thr)	ADAM32 (A699T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527427	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41294984)	ADAM18, ADAM2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 688131	GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	ADAM18, ADAM2 +54 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563546	GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	ADGRA2, BAG4 +41 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442711	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41298595)x1	ADAM18, ADAM2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ALKAL1, ANK1 +133 more	Copy number gain	See cases	GUncertain significance
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 150494	GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1	ADAM32, ADAM9 +79 more	Copy number loss	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 145616	GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	ADAM18, ADAM2 +98 more	Copy number loss	See cases	GPathogenic
Select item 60360	GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)x1	ADAM18, ADAM2 +81 more	Copy number loss	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic

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