ClinVar for Gene (Select 27164) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316058	NM_171999.4(SALL3):c.217T>A (p.Cys73Ser)	SALL3 (C73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316057	NM_171999.4(SALL3):c.3790C>G (p.Arg1264Gly)	SALL3 (R1264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316056	NM_171999.4(SALL3):c.1558C>G (p.Pro520Ala)	SALL3 (P520A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316055	NM_171999.4(SALL3):c.3314C>T (p.Pro1105Leu)	SALL3 (P1105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316054	NM_171999.4(SALL3):c.3520C>A (p.Arg1174Ser)	SALL3 (R1174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316052	NM_171999.4(SALL3):c.2842G>A (p.Gly948Arg)	SALL3 (G948R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316051	NM_171999.4(SALL3):c.118G>C (p.Gly40Arg)	SALL3 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316050	NM_171999.4(SALL3):c.860A>G (p.Glu287Gly)	SALL3 (E287G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316049	NM_171999.4(SALL3):c.2726C>G (p.Pro909Arg)	SALL3 (P909R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316048	NM_171999.4(SALL3):c.2927G>A (p.Ser976Asn)	SALL3 (S976N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316047	NM_171999.4(SALL3):c.3074T>C (p.Leu1025Pro)	SALL3 (L1025P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316046	NM_171999.4(SALL3):c.1966A>G (p.Met656Val)	SALL3 (M656V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316045	NM_171999.4(SALL3):c.3754C>T (p.Pro1252Ser)	SALL3 (P1252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316044	NM_171999.4(SALL3):c.190G>A (p.Ala64Thr)	SALL3 (A64T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3316043	NM_171999.4(SALL3):c.3310C>T (p.Pro1104Ser)	SALL3 (P1104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316041	NM_171999.4(SALL3):c.3830C>T (p.Ala1277Val)	SALL3 (A1277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316040	NM_171999.4(SALL3):c.1564G>A (p.Val522Met)	SALL3 (V522M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157608	NM_171999.4(SALL3):c.991A>C (p.Ser331Arg)	SALL3 (S331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157607	NM_171999.4(SALL3):c.961G>A (p.Ala321Thr)	SALL3 (A321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157606	NM_171999.4(SALL3):c.785C>T (p.Ala262Val)	SALL3 (A262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157604	NM_171999.4(SALL3):c.45C>G (p.Asp15Glu)	SALL3 (D15E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157603	NM_171999.4(SALL3):c.3818G>C (p.Ser1273Thr)	SALL3 (S1273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157602	NM_171999.4(SALL3):c.3709G>A (p.Gly1237Ser)	SALL3 (G1237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157601	NM_171999.4(SALL3):c.3521G>A (p.Arg1174His)	SALL3 (R1174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157600	NM_171999.4(SALL3):c.330G>C (p.Glu110Asp)	SALL3 (E110D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157599	NM_171999.4(SALL3):c.3259C>G (p.Pro1087Ala)	SALL3 (P1087A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157598	NM_171999.4(SALL3):c.3072A>T (p.Leu1024Phe)	SALL3 (L1024F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157597	NM_171999.4(SALL3):c.3049A>G (p.Met1017Val)	SALL3 (M1017V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157596	NM_171999.4(SALL3):c.2861C>A (p.Ala954Glu)	SALL3 (A954E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157595	NM_171999.4(SALL3):c.2791A>G (p.Ile931Val)	SALL3 (I931V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157594	NM_171999.4(SALL3):c.2671G>A (p.Ala891Thr)	SALL3 (A891T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157593	NM_171999.4(SALL3):c.2660A>G (p.Glu887Gly)	SALL3 (E887G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157592	NM_171999.4(SALL3):c.2602G>T (p.Gly868Trp)	SALL3 (G868W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157591	NM_171999.4(SALL3):c.2515A>C (p.Ser839Arg)	SALL3 (S839R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157590	NM_171999.4(SALL3):c.2306C>T (p.Thr769Met)	SALL3 (T769M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157589	NM_171999.4(SALL3):c.2246C>G (p.Thr749Ser)	SALL3 (T749S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157588	NM_171999.4(SALL3):c.2215C>T (p.His739Tyr)	SALL3 (H739Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157587	NM_171999.4(SALL3):c.2206C>A (p.Arg736Ser)	SALL3 (R736S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157585	NM_171999.4(SALL3):c.199C>A (p.Leu67Met)	SALL3 (L67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157584	NM_171999.4(SALL3):c.1985C>G (p.Ser662Trp)	SALL3 (S662W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157583	NM_171999.4(SALL3):c.1853G>T (p.Ser618Ile)	SALL3 (S618I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157582	NM_171999.4(SALL3):c.1786G>A (p.Ala596Thr)	SALL3 (A596T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157581	NM_171999.4(SALL3):c.176A>C (p.Glu59Ala)	SALL3 (E59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157580	NM_171999.4(SALL3):c.1736C>T (p.Ala579Val)	SALL3 (A579V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157579	NM_171999.4(SALL3):c.1726G>T (p.Gly576Cys)	SALL3 (G576C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157578	NM_171999.4(SALL3):c.1714C>T (p.His572Tyr)	SALL3 (H572Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157576	NM_171999.4(SALL3):c.1669T>A (p.Ser557Thr)	SALL3 (S557T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148889	GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3	ADNP2, ATP9B +34 more	Copy number gain	not provided	GPathogenic
Select item 3063551	GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1	ADNP2, ATP9B +19 more	Copy number loss	not specified	GPathogenic
Select item 3063550	GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1	ADNP2, ATP9B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063547	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not specified	GPathogenic
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2685626	GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2648820	NM_171999.4(SALL3):c.3726C>T (p.Pro1242=)	SALL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621083	NM_171999.4(SALL3):c.3491T>C (p.Met1164Thr)	SALL3 (M1164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614570	NM_171999.4(SALL3):c.3286C>T (p.Pro1096Ser)	SALL3 (P1096S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611657	NM_171999.4(SALL3):c.154G>T (p.Val52Leu)	SALL3 (V52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610833	NM_171999.4(SALL3):c.244G>T (p.Val82Leu)	SALL3 (V82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600101	NM_171999.4(SALL3):c.608C>A (p.Pro203His)	SALL3 (P203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593146	NM_171999.4(SALL3):c.2188C>T (p.Arg730Cys)	SALL3 (R730C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592266	NM_171999.4(SALL3):c.2179G>A (p.Gly727Ser)	SALL3 (G727S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ZNF236, ADNP2 +37 more	Copy number loss	not provided	GPathogenic
Select item 2574698	GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)	ADNP2, ATP9B +34 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2571020	GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2552761	NM_171999.4(SALL3):c.2675G>C (p.Gly892Ala)	SALL3 (G892A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546445	NM_171999.4(SALL3):c.460C>T (p.Pro154Ser)	SALL3 (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543072	NM_171999.4(SALL3):c.244G>A (p.Val82Met)	SALL3 (V82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542180	NM_171999.4(SALL3):c.3082A>G (p.Arg1028Gly)	SALL3 (R1028G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540266	NM_171999.4(SALL3):c.61C>T (p.Pro21Ser)	SALL3 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536489	NM_171999.4(SALL3):c.880C>T (p.Arg294Trp)	SALL3 (R294W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532073	NM_171999.4(SALL3):c.1484C>G (p.Ser495Trp)	SALL3 (S495W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525286	NM_171999.4(SALL3):c.3814G>A (p.Val1272Ile)	SALL3 (V1272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522609	NM_171999.4(SALL3):c.3790C>T (p.Arg1264Cys)	SALL3 (R1264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517754	NM_171999.4(SALL3):c.1735G>A (p.Ala579Thr)	SALL3 (A579T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516886	NM_171999.4(SALL3):c.56T>C (p.Leu19Pro)	SALL3 (L19P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513580	NM_171999.4(SALL3):c.2857C>T (p.Arg953Cys)	SALL3 (R953C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513372	NM_171999.4(SALL3):c.3866G>A (p.Arg1289Gln)	SALL3 (R1289Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512867	NM_171999.4(SALL3):c.3733C>A (p.Leu1245Ile)	SALL3 (L1245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500799	GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	CYB5A, PARD6G +33 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2484976	NM_171999.4(SALL3):c.920A>C (p.Glu307Ala)	SALL3 (E307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478413	NM_171999.4(SALL3):c.1442C>T (p.Pro481Leu)	SALL3 (P481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476521	NM_171999.4(SALL3):c.923C>G (p.Pro308Arg)	SALL3 (P308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474735	NM_171999.4(SALL3):c.1211T>G (p.Val404Gly)	SALL3 (V404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474682	NM_171999.4(SALL3):c.1733C>G (p.Ser578Trp)	SALL3 (S578W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470154	NM_171999.4(SALL3):c.2020A>G (p.Lys674Glu)	SALL3 (K674E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465941	NM_171999.4(SALL3):c.952C>G (p.Pro318Ala)	SALL3 (P318A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464241	NM_171999.4(SALL3):c.1732T>G (p.Ser578Ala)	SALL3 (S578A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459480	NM_171999.4(SALL3):c.1153A>T (p.Asn385Tyr)	SALL3 (N385Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406684	NM_171999.4(SALL3):c.1934C>T (p.Ala645Val)	SALL3 (A645V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405656	NM_171999.4(SALL3):c.551G>A (p.Gly184Asp)	SALL3 (G184D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405027	NM_171999.4(SALL3):c.3734T>G (p.Leu1245Arg)	SALL3 (L1245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404723	NM_171999.4(SALL3):c.105G>C (p.Glu35Asp)	SALL3 (E35D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403626	NM_171999.4(SALL3):c.2806G>A (p.Glu936Lys)	SALL3 (E936K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403351	NM_171999.4(SALL3):c.445C>G (p.Pro149Ala)	SALL3 (P149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398601	NM_171999.4(SALL3):c.1933G>A (p.Ala645Thr)	SALL3 (A645T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394568	NM_171999.4(SALL3):c.221C>G (p.Thr74Ser)	SALL3 (T74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393310	NM_171999.4(SALL3):c.169T>C (p.Cys57Arg)	SALL3 (C57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388319	NM_171999.4(SALL3):c.737C>T (p.Ala246Val)	SALL3 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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