ClinVar for Gene (Select 92949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268334	NM_001040272.6(ADAMTSL1):c.4175C>A (p.Pro1392Gln)	ADAMTSL1 (P1392Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268330	NM_001040272.6(ADAMTSL1):c.3181G>A (p.Glu1061Lys)	ADAMTSL1 (E1061K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268322	NM_001040272.6(ADAMTSL1):c.4764G>A (p.Met1588Ile)	ADAMTSL1 (M1588I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268311	NM_001040272.6(ADAMTSL1):c.2365C>G (p.Pro789Ala)	ADAMTSL1, LOC126860588 (P789A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268300	NM_001040272.6(ADAMTSL1):c.4481A>G (p.Asp1494Gly)	ADAMTSL1 (D1494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268291	NM_001040272.6(ADAMTSL1):c.3616G>A (p.Gly1206Ser)	ADAMTSL1 (G1206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268285	NM_001040272.6(ADAMTSL1):c.230G>A (p.Ser77Asn)	ADAMTSL1 (S77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268277	NM_001040272.6(ADAMTSL1):c.4517G>A (p.Arg1506Gln)	ADAMTSL1 (R1506Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268266	NM_001040272.6(ADAMTSL1):c.4773G>C (p.Gln1591His)	ADAMTSL1 (Q1591H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268255	NM_001040272.6(ADAMTSL1):c.2413G>A (p.Gly805Arg)	ADAMTSL1 (G805R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268235	NM_001040272.6(ADAMTSL1):c.1810G>A (p.Asp604Asn)	ADAMTSL1 (D604N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268224	NM_001040272.6(ADAMTSL1):c.994G>C (p.Val332Leu)	ADAMTSL1 (V332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268212	NM_001040272.6(ADAMTSL1):c.4684G>T (p.Gly1562Trp)	ADAMTSL1 (G1562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268202	NM_001040272.6(ADAMTSL1):c.4777G>A (p.Ala1593Thr)	ADAMTSL1 (A1593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268183	NM_001040272.6(ADAMTSL1):c.2386G>C (p.Asp796His)	ADAMTSL1, LOC126860588 (D796H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268164	NM_001040272.6(ADAMTSL1):c.4691G>A (p.Gly1564Asp)	ADAMTSL1 (G1564D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268153	NM_001040272.6(ADAMTSL1):c.1688C>T (p.Pro563Leu)	ADAMTSL1 (P563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268143	NM_001040272.6(ADAMTSL1):c.3056G>A (p.Ser1019Asn)	ADAMTSL1 (S1019N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268132	NM_001040272.6(ADAMTSL1):c.2236G>A (p.Gly746Arg)	ADAMTSL1, LOC126860588 (G746R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268125	NM_001040272.6(ADAMTSL1):c.2743G>A (p.Gly915Ser)	ADAMTSL1 (G915S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268118	NM_001040272.6(ADAMTSL1):c.2447G>A (p.Arg816Gln)	ADAMTSL1 (R816Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268110	NM_001040272.6(ADAMTSL1):c.1801G>C (p.Gly601Arg)	ADAMTSL1 (G601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079060	NM_001040272.6(ADAMTSL1):c.5038G>T (p.Ala1680Ser)	ADAMTSL1 (A1680S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079054	NM_001040272.6(ADAMTSL1):c.4916G>A (p.Arg1639Gln)	ADAMTSL1 (R1639Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079040	NM_001040272.6(ADAMTSL1):c.4784G>A (p.Arg1595Gln)	ADAMTSL1 (R1595Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079036	NM_001040272.6(ADAMTSL1):c.4757A>G (p.Asn1586Ser)	ADAMTSL1 (N1586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079035	NM_001040272.6(ADAMTSL1):c.4703G>T (p.Arg1568Leu)	ADAMTSL1 (R1568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079030	NM_001040272.6(ADAMTSL1):c.4703G>A (p.Arg1568His)	ADAMTSL1 (R1568H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079027	NM_001040272.6(ADAMTSL1):c.4616C>T (p.Ala1539Val)	ADAMTSL1 (A1539V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079019	NM_001040272.6(ADAMTSL1):c.4557C>G (p.Ser1519Arg)	ADAMTSL1 (S1519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078988	NM_001040272.6(ADAMTSL1):c.4139T>G (p.Leu1380Trp)	ADAMTSL1 (L1380W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078978	NM_001040272.6(ADAMTSL1):c.4076A>G (p.His1359Arg)	ADAMTSL1 (H1359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078973	NM_001040272.6(ADAMTSL1):c.3989C>T (p.Pro1330Leu)	ADAMTSL1 (P1330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078971	NM_001040272.6(ADAMTSL1):c.3900G>C (p.Gln1300His)	ADAMTSL1 (Q1300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078961	NM_001040272.6(ADAMTSL1):c.3736G>A (p.Gly1246Ser)	ADAMTSL1 (G1246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078956	NM_001040272.6(ADAMTSL1):c.3629C>T (p.Pro1210Leu)	ADAMTSL1 (P1210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078938	NM_001040272.6(ADAMTSL1):c.3067G>A (p.Asp1023Asn)	ADAMTSL1 (D1023N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078935	NM_001040272.6(ADAMTSL1):c.303C>A (p.His101Gln)	ADAMTSL1 (H101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078930	NM_001040272.6(ADAMTSL1):c.3004T>C (p.Phe1002Leu)	ADAMTSL1 (F1002L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078886	NM_001040272.6(ADAMTSL1):c.2404A>G (p.Thr802Ala)	ADAMTSL1 (T802A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078882	NM_001040272.6(ADAMTSL1):c.2404A>C (p.Thr802Pro)	ADAMTSL1 (T802P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078878	NM_001040272.6(ADAMTSL1):c.2375G>T (p.Trp792Leu)	ADAMTSL1, LOC126860588 (W792L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078872	NM_001040272.6(ADAMTSL1):c.2272C>T (p.Arg758Cys)	ADAMTSL1, LOC126860588 (R758C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078851	NM_001040272.6(ADAMTSL1):c.2071G>A (p.Val691Ile)	ADAMTSL1 (V691I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078827	NM_001040272.6(ADAMTSL1):c.1919G>A (p.Arg640Gln)	ADAMTSL1 (R640Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078820	NM_001040272.6(ADAMTSL1):c.1788T>A (p.Asp596Glu)	ADAMTSL1 (D596E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078819	NM_001040272.6(ADAMTSL1):c.175C>G (p.Arg59Gly)	ADAMTSL1 (R59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078792	NM_001040272.6(ADAMTSL1):c.1340C>T (p.Pro447Leu)	ADAMTSL1 (P447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078790	NM_001040272.6(ADAMTSL1):c.1324G>A (p.Ala442Thr)	ADAMTSL1 (A442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078778	NM_001040272.6(ADAMTSL1):c.1042A>C (p.Lys348Gln)	ADAMTSL1 (K348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3054042	NM_001040272.6(ADAMTSL1):c.95G>A (p.Arg32Gln)	ADAMTSL1 (R32Q)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GLikely benign
Select item 3051242	NM_001040272.6(ADAMTSL1):c.4381G>A (p.Gly1461Ser)	ADAMTSL1 (G1461S)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GLikely benign
Select item 3042672	NM_001040272.6(ADAMTSL1):c.508G>A (p.Val170Ile)	ADAMTSL1 (V170I)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GLikely benign
Select item 3038605	NM_001040272.6(ADAMTSL1):c.4415A>G (p.Gln1472Arg)	ADAMTSL1 (Q1472R)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GLikely benign
Select item 3031015	NM_001040272.6(ADAMTSL1):c.5183T>C (p.Met1728Thr)	ADAMTSL1 (M1728T)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GUncertain significance
Select item 3029667	NM_001040272.6(ADAMTSL1):c.3830G>A (p.Arg1277Gln)	ADAMTSL1 (R1277Q)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GUncertain significance
Select item 3024721	NM_001040272.6(ADAMTSL1):c.4998C>T (p.Cys1666=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024710	NM_001040272.6(ADAMTSL1):c.3935-10_3935-9del	ADAMTSL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2685342	GRCh37/hg19 9p22.2-22.1(chr9:16814127-19131921)x1	ADAMTSL1, BNC2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2681716	NM_001040272.6(ADAMTSL1):c.2137C>T (p.Arg713Cys)	ADAMTSL1 (R713C)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2659102	NM_001040272.6(ADAMTSL1):c.4926C>T (p.Ile1642=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659101	NM_001040272.6(ADAMTSL1):c.4293T>C (p.Phe1431=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659100	NM_001040272.6(ADAMTSL1):c.3910G>A (p.Val1304Met)	ADAMTSL1 (V1304M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659099	NM_001040272.6(ADAMTSL1):c.3806-7T>C	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659098	NM_001040272.6(ADAMTSL1):c.3788T>C (p.Ile1263Thr)	ADAMTSL1 (I1263T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659097	NM_001040272.6(ADAMTSL1):c.2829C>T (p.Gly943=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659096	NM_001040272.6(ADAMTSL1):c.2007-4_2007-3del	ADAMTSL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2659095	NM_001040272.6(ADAMTSL1):c.1575-8G>A	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659094	NM_001040272.6(ADAMTSL1):c.1137-4G>A	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2659093	NM_001040272.6(ADAMTSL1):c.383C>A (p.Thr128Lys)	ADAMTSL1 (T128K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2629331	NM_001040272.6(ADAMTSL1):c.1504G>A (p.Glu502Lys)	ADAMTSL1 (E502K)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GUncertain significance
Select item 2623015	NM_001040272.6(ADAMTSL1):c.2173C>T (p.Arg725Cys)	ADAMTSL1 (R725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620110	NM_001040272.6(ADAMTSL1):c.3251A>C (p.Asn1084Thr)	ADAMTSL1 (N1084T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614587	NM_001040272.6(ADAMTSL1):c.4437G>A (p.Met1479Ile)	ADAMTSL1 (M1479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608247	NM_001040272.6(ADAMTSL1):c.3014G>T (p.Gly1005Val)	ADAMTSL1 (G1005V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607816	NM_001040272.6(ADAMTSL1):c.3317A>G (p.Gln1106Arg)	ADAMTSL1 (Q1106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602279	NM_001040272.6(ADAMTSL1):c.2582C>G (p.Pro861Arg)	ADAMTSL1 (P861R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602271	NM_001040272.6(ADAMTSL1):c.2758A>G (p.Ser920Gly)	ADAMTSL1 (S920G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598628	NM_001040272.6(ADAMTSL1):c.487G>A (p.Asp163Asn)	ADAMTSL1 (D163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597838	NM_001040272.6(ADAMTSL1):c.305A>C (p.His102Pro)	ADAMTSL1 (H102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589000	NM_001040272.6(ADAMTSL1):c.3848C>T (p.Thr1283Met)	ADAMTSL1 (T1283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588631	NM_001040272.6(ADAMTSL1):c.4987T>C (p.Ser1663Pro)	ADAMTSL1 (S1663P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575899	NM_001040272.6(ADAMTSL1):c.281C>T (p.Ser94Leu)	ADAMTSL1 (S94L)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GUncertain significance
Select item 2569007	NM_001040272.6(ADAMTSL1):c.782A>G (p.Asp261Gly)	ADAMTSL1 (D261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558340	NM_001040272.6(ADAMTSL1):c.4356G>C (p.Gln1452His)	ADAMTSL1 (Q1452H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554789	NM_001040272.6(ADAMTSL1):c.2677A>C (p.Thr893Pro)	ADAMTSL1 (T893P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549195	NM_001040272.6(ADAMTSL1):c.4876C>T (p.His1626Tyr)	ADAMTSL1 (H1626Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539452	NM_001040272.6(ADAMTSL1):c.2580C>A (p.Ser860Arg)	ADAMTSL1 (S860R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528078	NM_001040272.6(ADAMTSL1):c.344C>T (p.Pro115Leu)	ADAMTSL1 (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524861	NM_001040272.6(ADAMTSL1):c.1268C>T (p.Thr423Ile)	ADAMTSL1 (T423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518510	NM_001040272.6(ADAMTSL1):c.3355C>G (p.Leu1119Val)	ADAMTSL1 (L1119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517278	NM_001040272.6(ADAMTSL1):c.3274C>G (p.Leu1092Val)	ADAMTSL1 (L1092V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513622	NM_001040272.6(ADAMTSL1):c.2950A>T (p.Arg984Trp)	ADAMTSL1 (R984W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508415	NM_001040272.6(ADAMTSL1):c.2596G>A (p.Ala866Thr)	ADAMTSL1 (A866T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492214	NM_001040272.6(ADAMTSL1):c.4928C>G (p.Thr1643Ser)	ADAMTSL1 (T1643S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485110	NM_001040272.6(ADAMTSL1):c.2705G>T (p.Arg902Leu)	ADAMTSL1 (R902L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484989	NM_001040272.6(ADAMTSL1):c.1979C>T (p.Ser660Phe)	ADAMTSL1 (S660F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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