ClinVar for Gene (Select 51332) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 531

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354994	NM_016642.4(SPTBN5):c.550C>A (p.Leu184Met)	SPTBN5 (L184M)	Single nucleotide variant (missense variant)	SPTBN5-related disorder	GUncertain significance
Select item 3341578	NM_016642.4(SPTBN5):c.6781C>T (p.Leu2261=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3341577	NM_016642.4(SPTBN5):c.7815G>A (p.Trp2605Ter)	SPTBN5 (W2605*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3341576	NM_016642.4(SPTBN5):c.10871C>G (p.Pro3624Arg)	SPTBN5 (P3624R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3322528	NM_016642.4(SPTBN5):c.8273T>C (p.Ile2758Thr)	SPTBN5 (I2758T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322527	NM_016642.4(SPTBN5):c.6994G>A (p.Val2332Ile)	SPTBN5 (V2332I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322526	NM_016642.4(SPTBN5):c.1537G>A (p.Val513Met)	SPTBN5 (V513M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322525	NM_016642.4(SPTBN5):c.4060C>T (p.Arg1354Trp)	SPTBN5 (R1354W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322524	NM_016642.4(SPTBN5):c.752T>G (p.Ile251Ser)	SPTBN5 (I251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322523	NM_016642.4(SPTBN5):c.8416A>G (p.Ile2806Val)	SPTBN5 (I2806V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322522	NM_016642.4(SPTBN5):c.8993C>T (p.Ala2998Val)	SPTBN5 (A2998V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322521	NM_016642.4(SPTBN5):c.6596A>G (p.Gln2199Arg)	SPTBN5 (Q2199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322520	NM_016642.4(SPTBN5):c.7075C>A (p.Gln2359Lys)	SPTBN5 (Q2359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322519	NM_016642.4(SPTBN5):c.9835G>A (p.Gly3279Ser)	SPTBN5 (G3279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322518	NM_016642.4(SPTBN5):c.6620C>T (p.Ser2207Phe)	SPTBN5 (S2207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322517	NM_016642.4(SPTBN5):c.9124G>A (p.Glu3042Lys)	SPTBN5 (E3042K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322516	NM_016642.4(SPTBN5):c.1079T>C (p.Leu360Pro)	SPTBN5 (L360P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322515	NM_016642.4(SPTBN5):c.8907G>C (p.Glu2969Asp)	SPTBN5 (E2969D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322514	NM_016642.4(SPTBN5):c.10604C>G (p.Thr3535Ser)	SPTBN5 (T3535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322513	NM_016642.4(SPTBN5):c.7479G>A (p.Met2493Ile)	SPTBN5 (M2493I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322512	NM_016642.4(SPTBN5):c.7124A>G (p.Asn2375Ser)	SPTBN5 (N2375S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322511	NM_016642.4(SPTBN5):c.6239C>T (p.Ser2080Leu)	SPTBN5 (S2080L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322510	NM_016642.4(SPTBN5):c.5945T>C (p.Leu1982Pro)	SPTBN5 (L1982P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322509	NM_016642.4(SPTBN5):c.151C>G (p.Arg51Gly)	LOC105370792, SPTBN5 (R51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322508	NM_016642.4(SPTBN5):c.3821T>A (p.Leu1274Gln)	SPTBN5 (L1274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322507	NM_016642.4(SPTBN5):c.3485A>C (p.Asp1162Ala)	SPTBN5 (D1162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322506	NM_016642.4(SPTBN5):c.10874C>G (p.Ser3625Cys)	SPTBN5 (S3625C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322505	NM_016642.4(SPTBN5):c.8968C>T (p.Arg2990Trp)	SPTBN5 (R2990W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322504	NM_016642.4(SPTBN5):c.10685G>T (p.Arg3562Leu)	SPTBN5 (R3562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322503	NM_016642.4(SPTBN5):c.2134A>G (p.Thr712Ala)	SPTBN5 (T712A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322502	NM_016642.4(SPTBN5):c.7456G>A (p.Ala2486Thr)	SPTBN5 (A2486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322501	NM_016642.4(SPTBN5):c.6359T>C (p.Val2120Ala)	SPTBN5 (V2120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322500	NM_016642.4(SPTBN5):c.8247G>C (p.Gln2749His)	SPTBN5 (Q2749H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322499	NM_016642.4(SPTBN5):c.9610C>T (p.Arg3204Cys)	SPTBN5 (R3204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322498	NM_016642.4(SPTBN5):c.811A>G (p.Met271Val)	SPTBN5 (M271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322497	NM_016642.4(SPTBN5):c.4027G>A (p.Gly1343Arg)	SPTBN5 (G1343R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322496	NM_016642.4(SPTBN5):c.1293C>G (p.Phe431Leu)	SPTBN5 (F431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322495	NM_016642.4(SPTBN5):c.10784G>A (p.Arg3595Gln)	SPTBN5 (R3595Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322494	NM_016642.4(SPTBN5):c.7808G>T (p.Gly2603Val)	SPTBN5 (G2603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322493	NM_016642.4(SPTBN5):c.5936C>T (p.Pro1979Leu)	SPTBN5 (P1979L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322492	NM_016642.4(SPTBN5):c.9382G>A (p.Ala3128Thr)	SPTBN5 (A3128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322491	NM_016642.4(SPTBN5):c.2366G>A (p.Arg789Gln)	SPTBN5 (R789Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322490	NM_016642.4(SPTBN5):c.9161G>A (p.Arg3054His)	SPTBN5 (R3054H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322489	NM_016642.4(SPTBN5):c.10013C>A (p.Ser3338Tyr)	SPTBN5 (S3338Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322488	NM_016642.4(SPTBN5):c.5105G>A (p.Arg1702His)	SPTBN5 (R1702H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322487	NM_016642.4(SPTBN5):c.6368G>A (p.Arg2123Gln)	SPTBN5 (R2123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322486	NM_016642.4(SPTBN5):c.6392G>A (p.Arg2131Gln)	SPTBN5 (R2131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322485	NM_016642.4(SPTBN5):c.6886C>T (p.Arg2296Trp)	SPTBN5 (R2296W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322484	NM_016642.4(SPTBN5):c.4268A>C (p.Gln1423Pro)	SPTBN5 (Q1423P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322483	NM_016642.4(SPTBN5):c.8660C>T (p.Thr2887Met)	SPTBN5 (T2887M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322482	NM_016642.4(SPTBN5):c.5138G>A (p.Arg1713Gln)	SPTBN5 (R1713Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322481	NM_016642.4(SPTBN5):c.3286C>T (p.Arg1096Trp)	SPTBN5 (R1096W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322480	NM_016642.4(SPTBN5):c.1444C>T (p.Arg482Cys)	SPTBN5 (R482C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322479	NM_016642.4(SPTBN5):c.6893G>A (p.Arg2298His)	SPTBN5 (R2298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322478	NM_016642.4(SPTBN5):c.10765C>G (p.Leu3589Val)	SPTBN5 (L3589V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322477	NM_016642.4(SPTBN5):c.3115C>A (p.Gln1039Lys)	SPTBN5 (Q1039K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169741	NM_016642.4(SPTBN5):c.10087A>G (p.Ile3363Val)	SPTBN5 (I3363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169740	NM_016642.4(SPTBN5):c.9830G>A (p.Arg3277Gln)	SPTBN5 (R3277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169739	NM_016642.4(SPTBN5):c.9787G>T (p.Ala3263Ser)	SPTBN5 (A3263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169738	NM_016642.4(SPTBN5):c.9745A>C (p.Thr3249Pro)	SPTBN5 (T3249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169737	NM_016642.4(SPTBN5):c.1055G>A (p.Arg352His)	SPTBN5 (R352H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169736	NM_016642.4(SPTBN5):c.1054C>T (p.Arg352Cys)	SPTBN5 (R352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169735	NM_016642.4(SPTBN5):c.9425T>A (p.Val3142Glu)	SPTBN5 (V3142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169734	NM_016642.4(SPTBN5):c.9385G>A (p.Glu3129Lys)	SPTBN5 (E3129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169733	NM_016642.4(SPTBN5):c.9339G>C (p.Glu3113Asp)	SPTBN5 (E3113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169732	NM_016642.4(SPTBN5):c.9337G>A (p.Glu3113Lys)	SPTBN5 (E3113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169731	NM_016642.4(SPTBN5):c.9295C>T (p.His3099Tyr)	SPTBN5 (H3099Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169730	NM_016642.4(SPTBN5):c.9281C>A (p.Ala3094Glu)	SPTBN5 (A3094E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169729	NM_016642.4(SPTBN5):c.1021A>T (p.Met341Leu)	SPTBN5 (M341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169728	NM_016642.4(SPTBN5):c.9257C>T (p.Ala3086Val)	SPTBN5 (A3086V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169727	NM_016642.4(SPTBN5):c.9251G>A (p.Arg3084Gln)	SPTBN5 (R3084Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169725	NM_016642.4(SPTBN5):c.9094G>A (p.Glu3032Lys)	SPTBN5 (E3032K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169724	NM_016642.4(SPTBN5):c.193A>G (p.Asn65Asp)	LOC105370792, SPTBN5 (N65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169723	NM_016642.4(SPTBN5):c.8966C>T (p.Ala2989Val)	SPTBN5 (A2989V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169722	NM_016642.4(SPTBN5):c.8953C>T (p.Arg2985Trp)	SPTBN5 (R2985W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169721	NM_016642.4(SPTBN5):c.8905G>A (p.Glu2969Lys)	SPTBN5 (E2969K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169720	NM_016642.4(SPTBN5):c.8904C>G (p.His2968Gln)	SPTBN5 (H2968Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169719	NM_016642.4(SPTBN5):c.8848C>T (p.Arg2950Trp)	SPTBN5 (R2950W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169718	NM_016642.4(SPTBN5):c.8836G>A (p.Glu2946Lys)	SPTBN5 (E2946K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169717	NM_016642.4(SPTBN5):c.8769G>C (p.Gln2923His)	SPTBN5 (Q2923H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169716	NM_016642.4(SPTBN5):c.8758G>A (p.Asp2920Asn)	SPTBN5 (D2920N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169715	NM_016642.4(SPTBN5):c.8654G>A (p.Arg2885His)	SPTBN5 (R2885H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169714	NM_016642.4(SPTBN5):c.8606G>A (p.Arg2869Gln)	SPTBN5 (R2869Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169713	NM_016642.4(SPTBN5):c.8450A>C (p.Gln2817Pro)	SPTBN5 (Q2817P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169712	NM_016642.4(SPTBN5):c.8372G>A (p.Arg2791His)	SPTBN5 (R2791H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169711	NM_016642.4(SPTBN5):c.929A>C (p.Gln310Pro)	SPTBN5 (Q310P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169710	NM_016642.4(SPTBN5):c.8080G>T (p.Val2694Leu)	SPTBN5 (V2694L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169708	NM_016642.4(SPTBN5):c.8068G>C (p.Asp2690His)	SPTBN5 (D2690H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169707	NM_016642.4(SPTBN5):c.8020C>T (p.Arg2674Cys)	SPTBN5 (R2674C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169706	NM_016642.4(SPTBN5):c.873G>C (p.Gln291His)	SPTBN5 (Q291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169705	NM_016642.4(SPTBN5):c.7616C>T (p.Ala2539Val)	SPTBN5 (A2539V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169704	NM_016642.4(SPTBN5):c.7394C>T (p.Ala2465Val)	SPTBN5 (A2465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169703	NM_016642.4(SPTBN5):c.7303C>T (p.Pro2435Ser)	SPTBN5 (P2435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169702	NM_016642.4(SPTBN5):c.7297A>G (p.Arg2433Gly)	SPTBN5 (R2433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169701	NM_016642.4(SPTBN5):c.7195G>T (p.Val2399Leu)	SPTBN5 (V2399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169700	NM_016642.4(SPTBN5):c.7013G>A (p.Arg2338Gln)	SPTBN5 (R2338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169699	NM_016642.4(SPTBN5):c.6993A>T (p.Glu2331Asp)	SPTBN5 (E2331D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169698	NM_016642.4(SPTBN5):c.6923C>T (p.Thr2308Ile)	SPTBN5 (T2308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169697	NM_016642.4(SPTBN5):c.6911C>T (p.Ser2304Leu)	SPTBN5 (S2304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169696	NM_016642.4(SPTBN5):c.6767A>G (p.Asn2256Ser)	SPTBN5 (N2256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 6