ClinVar for Gene (Select 170690) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266932	NM_139056.4(ADAMTS16):c.2682G>C (p.Glu894Asp)	ADAMTS16 (E894D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266921	NM_139056.4(ADAMTS16):c.457T>A (p.Ser153Thr)	ADAMTS16, LOC126807300 (S153T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266910	NM_139056.4(ADAMTS16):c.1702T>A (p.Trp568Arg)	ADAMTS16 (W568R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266900	NM_139056.4(ADAMTS16):c.986G>C (p.Gly329Ala)	ADAMTS16 (G329A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266892	NM_139056.4(ADAMTS16):c.766A>G (p.Met256Val)	ADAMTS16 (M256V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266884	NM_139056.4(ADAMTS16):c.2597C>A (p.Pro866His)	ADAMTS16 (P866H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266879	NM_139056.4(ADAMTS16):c.1442A>G (p.Lys481Arg)	ADAMTS16 (K481R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266869	NM_139056.4(ADAMTS16):c.3329C>A (p.Ala1110Asp)	ADAMTS16 (A1110D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266859	NM_139056.4(ADAMTS16):c.299G>A (p.Arg100Gln)	ADAMTS16, LOC126807300 (R100Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266848	NM_139056.4(ADAMTS16):c.3097G>A (p.Glu1033Lys)	ADAMTS16 (E1033K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3147671	NM_139056.4(ADAMTS16):c.607G>A (p.Val203Ile)	ADAMTS16 (V203I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3147658	NM_139056.4(ADAMTS16):c.541A>G (p.Arg181Gly)	ADAMTS16 (R181G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147653	NM_139056.4(ADAMTS16):c.520G>A (p.Glu174Lys)	ADAMTS16 (E174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147625	NM_139056.4(ADAMTS16):c.3445A>T (p.Arg1149Trp)	ADAMTS16 (R1149W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147619	NM_139056.4(ADAMTS16):c.331G>T (p.Asp111Tyr)	ADAMTS16, LOC126807300 (D111Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147615	NM_139056.4(ADAMTS16):c.3259T>C (p.Tyr1087His)	ADAMTS16 (Y1087H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147611	NM_139056.4(ADAMTS16):c.3130C>G (p.Leu1044Val)	ADAMTS16 (L1044V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147604	NM_139056.4(ADAMTS16):c.3079G>A (p.Asp1027Asn)	ADAMTS16 (D1027N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147603	NM_139056.4(ADAMTS16):c.3056C>T (p.Ser1019Leu)	ADAMTS16 (S1019L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147602	NM_139056.4(ADAMTS16):c.2963C>T (p.Pro988Leu)	ADAMTS16 (P988L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147596	NM_139056.4(ADAMTS16):c.2869C>T (p.Arg957Trp)	ADAMTS16 (R957W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147579	NM_139056.4(ADAMTS16):c.2505C>A (p.Asn835Lys)	ADAMTS16 (N835K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147578	NM_139056.4(ADAMTS16):c.2501C>A (p.Thr834Asn)	ADAMTS16 (T834N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147577	NM_139056.4(ADAMTS16):c.2461T>G (p.Ser821Ala)	ADAMTS16 (S821A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147575	NM_139056.4(ADAMTS16):c.2416C>T (p.Pro806Ser)	ADAMTS16 (P806S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147561	NM_139056.4(ADAMTS16):c.14C>T (p.Ala5Val)	ADAMTS16 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147557	NM_139056.4(ADAMTS16):c.1112G>A (p.Gly371Glu)	ADAMTS16 (G371E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147549	NM_139056.4(ADAMTS16):c.101C>T (p.Ala34Val)	ADAMTS16 (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684407	GRCh37/hg19 5p15.33-15.32(chr5:4391653-5439206)x3	ADAMTS16, ICE1	Copy number gain	not provided	GUncertain significance
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655288	NM_139056.4(ADAMTS16):c.3609C>T (p.His1203=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655287	NM_139056.4(ADAMTS16):c.3559+8C>T	ADAMTS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655286	NM_139056.4(ADAMTS16):c.3327C>T (p.Cys1109=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655285	NM_139056.4(ADAMTS16):c.2502C>A (p.Thr834=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655284	NM_139056.4(ADAMTS16):c.2340C>T (p.Asn780=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655283	NM_139056.4(ADAMTS16):c.1071C>T (p.His357=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655282	NM_139056.4(ADAMTS16):c.964-8T>A	ADAMTS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655281	NM_139056.4(ADAMTS16):c.81G>T (p.Ala27=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619974	NM_139056.4(ADAMTS16):c.1374G>A (p.Met458Ile)	ADAMTS16 (M458I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598354	NM_139056.4(ADAMTS16):c.3416C>T (p.Thr1139Met)	ADAMTS16 (T1139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2559641	NM_139056.4(ADAMTS16):c.238A>G (p.Met80Val)	ADAMTS16, LOC126807300 (M80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557665	NM_139056.4(ADAMTS16):c.2813C>T (p.Ala938Val)	ADAMTS16 (A938V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555553	NM_139056.4(ADAMTS16):c.543G>T (p.Arg181Ser)	ADAMTS16 (R181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549975	NM_139056.4(ADAMTS16):c.2044T>C (p.Tyr682His)	ADAMTS16 (Y682H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518816	NM_139056.4(ADAMTS16):c.1541C>T (p.Ala514Val)	ADAMTS16 (A514V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493525	NM_139056.4(ADAMTS16):c.836G>T (p.Arg279Leu)	ADAMTS16 (R279L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488821	NM_139056.4(ADAMTS16):c.3313C>A (p.Leu1105Met)	ADAMTS16 (L1105M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477161	NM_139056.4(ADAMTS16):c.106G>T (p.Ala36Ser)	ADAMTS16 (A36S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2474182	NM_139056.4(ADAMTS16):c.3419C>T (p.Ala1140Val)	ADAMTS16 (A1140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471667	NM_139056.4(ADAMTS16):c.550C>T (p.Pro184Ser)	ADAMTS16 (P184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466531	NM_139056.4(ADAMTS16):c.3518T>G (p.Leu1173Arg)	ADAMTS16 (L1173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429358	NM_139056.4(ADAMTS16):c.1822_1823del (p.Ser607_His608insTer)	ADAMTS16	Deletion (nonsense +1 more)	46,XY disorder of sex development	GLikely pathogenic
Select item 2401221	NM_139056.4(ADAMTS16):c.2822G>A (p.Arg941Gln)	ADAMTS16 (R941Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393957	NM_139056.4(ADAMTS16):c.1889G>A (p.Arg630His)	ADAMTS16 (R630H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392355	NM_139056.4(ADAMTS16):c.2575C>T (p.Arg859Cys)	ADAMTS16 (R859C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389649	NM_139056.4(ADAMTS16):c.2647G>A (p.Val883Met)	ADAMTS16 (V883M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387446	NM_139056.4(ADAMTS16):c.1088G>A (p.Ser363Asn)	ADAMTS16 (S363N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379307	NM_139056.4(ADAMTS16):c.2578T>G (p.Leu860Val)	ADAMTS16 (L860V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376628	NM_139056.4(ADAMTS16):c.923A>G (p.His308Arg)	ADAMTS16 (H308R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366451	NM_139056.4(ADAMTS16):c.835C>T (p.Arg279Cys)	ADAMTS16 (R279C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366396	NM_139056.4(ADAMTS16):c.1895T>C (p.Leu632Pro)	ADAMTS16 (L632P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366052	NM_139056.4(ADAMTS16):c.587A>G (p.Gln196Arg)	ADAMTS16 (Q196R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360931	NM_139056.4(ADAMTS16):c.3649A>C (p.Lys1217Gln)	ADAMTS16 (K1217Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355941	NM_139056.4(ADAMTS16):c.3515C>T (p.Ser1172Phe)	ADAMTS16 (S1172F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355103	NM_139056.4(ADAMTS16):c.715C>T (p.Arg239Cys)	ADAMTS16 (R239C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353259	NM_139056.4(ADAMTS16):c.812A>G (p.Tyr271Cys)	ADAMTS16 (Y271C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353076	NM_139056.4(ADAMTS16):c.254G>A (p.Arg85Gln)	ADAMTS16, LOC126807300 (R85Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349405	NM_139056.4(ADAMTS16):c.284A>G (p.Glu95Gly)	ADAMTS16, LOC126807300 (E95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337481	NM_139056.4(ADAMTS16):c.3578A>G (p.Tyr1193Cys)	ADAMTS16 (Y1193C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331281	NM_139056.4(ADAMTS16):c.3530C>T (p.Thr1177Ile)	ADAMTS16 (T1177I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329985	NM_139056.4(ADAMTS16):c.2654G>A (p.Cys885Tyr)	ADAMTS16 (C885Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324299	NM_139056.4(ADAMTS16):c.143C>T (p.Pro48Leu)	ADAMTS16 (P48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322393	NM_139056.4(ADAMTS16):c.3473G>C (p.Arg1158Pro)	ADAMTS16 (R1158P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321171	NM_139056.4(ADAMTS16):c.460C>T (p.His154Tyr)	ADAMTS16, LOC126807300 (H154Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320698	NM_139056.4(ADAMTS16):c.3200G>A (p.Cys1067Tyr)	ADAMTS16 (C1067Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312869	NM_139056.4(ADAMTS16):c.1522C>T (p.Pro508Ser)	ADAMTS16 (P508S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309447	NM_139056.4(ADAMTS16):c.1958C>T (p.Ala653Val)	ADAMTS16 (A653V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308935	NM_139056.4(ADAMTS16):c.2897C>T (p.Pro966Leu)	ADAMTS16 (P966L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308368	NM_139056.4(ADAMTS16):c.1460A>C (p.Gln487Pro)	ADAMTS16 (Q487P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307616	NM_139056.4(ADAMTS16):c.3622C>T (p.His1208Tyr)	ADAMTS16 (H1208Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294217	NM_139056.4(ADAMTS16):c.2157A>T (p.Arg719Ser)	ADAMTS16 (R719S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284144	NM_139056.4(ADAMTS16):c.1925G>A (p.Arg642Gln)	ADAMTS16 (R642Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280460	NM_139056.4(ADAMTS16):c.2776G>T (p.Ala926Ser)	ADAMTS16 (A926S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276227	NM_139056.4(ADAMTS16):c.2704T>C (p.Phe902Leu)	ADAMTS16 (F902L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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