STAB2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 224

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance
Select item 3170825	NM_017564.10(STAB2):c.4A>G (p.Met2Val)	STAB2 (M2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170813	NM_017564.10(STAB2):c.34G>A (p.Gly12Arg)	STAB2 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508695	NM_017564.10(STAB2):c.99G>T (p.Arg33Ser)	STAB2 (R33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384136	NM_017564.10(STAB2):c.140C>T (p.Ala47Val)	STAB2 (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170802	NM_017564.10(STAB2):c.161G>T (p.Cys54Phe)	STAB2 (C54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224679	NM_017564.10(STAB2):c.191G>T (p.Gly64Val)	STAB2 (G64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258589	NM_017564.10(STAB2):c.263G>A (p.Arg88His)	STAB2 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473118	NM_017564.10(STAB2):c.295C>T (p.Arg99Trp)	STAB2 (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295809	NM_017564.10(STAB2):c.296G>A (p.Arg99Gln)	STAB2 (R99Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367688	NM_017564.10(STAB2):c.310C>T (p.Arg104Cys)	STAB2 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348901	NM_017564.10(STAB2):c.311G>A (p.Arg104His)	STAB2 (R104H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170823	NM_017564.10(STAB2):c.457G>A (p.Asp153Asn)	STAB2 (D153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787927	NM_017564.10(STAB2):c.498T>C (p.Cys166=)	STAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787928	NM_017564.10(STAB2):c.532G>A (p.Asp178Asn)	STAB2 (D178N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775099	NM_017564.10(STAB2):c.558G>A (p.Ala186=)	STAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3170832	NM_017564.10(STAB2):c.565G>A (p.Gly189Ser)	STAB2 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170845	NM_017564.10(STAB2):c.689G>A (p.Gly230Asp)	STAB2 (G230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720484	NM_017564.10(STAB2):c.709+9A>C	STAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2612261	NM_017564.10(STAB2):c.755G>T (p.Cys252Phe)	STAB2 (C252F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714544	NM_017564.10(STAB2):c.758C>T (p.Thr253Met)	STAB2 (T253M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2322277	NM_017564.10(STAB2):c.776G>A (p.Arg259Gln)	STAB2 (R259Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170851	NM_017564.10(STAB2):c.781A>G (p.Ser261Gly)	STAB2 (S261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170852	NM_017564.10(STAB2):c.847A>G (p.Ile283Val)	STAB2 (I283V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170853	NM_017564.10(STAB2):c.875C>T (p.Ser292Phe)	STAB2 (S292F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233878	NM_017564.10(STAB2):c.880G>C (p.Val294Leu)	STAB2 (V294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720821	NM_017564.10(STAB2):c.906+6C>A	STAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 776741	NM_017564.10(STAB2):c.916G>A (p.Glu306Lys)	STAB2 (E306K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2531875	NM_017564.10(STAB2):c.971A>C (p.Asp324Ala)	STAB2 (D324A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737748	NM_017564.10(STAB2):c.993G>A (p.Pro331=)	STAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219237	NM_017564.10(STAB2):c.997C>A (p.His333Asn)	STAB2 (H333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361686	NM_017564.10(STAB2):c.1015A>T (p.Thr339Ser)	STAB2 (T339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596552	NM_017564.10(STAB2):c.1024G>A (p.Ala342Thr)	STAB2 (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378081	NM_017564.10(STAB2):c.1217C>T (p.Thr406Met)	STAB2 (T406M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323470	NM_017564.10(STAB2):c.1244T>C (p.Leu415Pro)	STAB2 (L415P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517695	NM_017564.10(STAB2):c.1277A>C (p.Asp426Ala)	STAB2 (D426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784472	NM_017564.10(STAB2):c.1279A>G (p.Asn427Asp)	STAB2 (N427D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2271080	NM_017564.10(STAB2):c.1295A>C (p.Tyr432Ser)	STAB2 (Y432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305330	NM_017564.10(STAB2):c.1382C>T (p.Ser461Leu)	STAB2 (S461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170800	NM_017564.10(STAB2):c.1481C>A (p.Ser494Tyr)	STAB2 (S494Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771183	NM_017564.10(STAB2):c.1521G>T (p.Lys507Asn)	STAB2 (K507N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747239	NM_017564.10(STAB2):c.1529C>G (p.Pro510Arg)	STAB2 (P510R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2454819	NM_017564.10(STAB2):c.1545C>G (p.Asn515Lys)	STAB2 (N515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285076	NM_017564.10(STAB2):c.1593C>A (p.Phe531Leu)	STAB2 (F531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610033	NM_017564.10(STAB2):c.1597T>A (p.Ser533Thr)	STAB2 (S533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170801	NM_017564.10(STAB2):c.1610A>T (p.Glu537Val)	STAB2 (E537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246231	NM_017564.10(STAB2):c.1639G>A (p.Asp547Asn)	STAB2 (D547N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643249	NM_017564.10(STAB2):c.1657T>C (p.Tyr553His)	STAB2 (Y553H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614702	NM_017564.10(STAB2):c.1664T>C (p.Ile555Thr)	STAB2 (I555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170803	NM_017564.10(STAB2):c.1705G>A (p.Gly569Ser)	STAB2 (G569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742004	NM_017564.10(STAB2):c.1759G>A (p.Val587Ile)	STAB2 (V587I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2535796	NM_017564.10(STAB2):c.1822A>G (p.Ile608Val)	STAB2 (I608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295289	NM_017564.10(STAB2):c.1864G>A (p.Asp622Asn)	STAB2 (D622N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 770232	NM_017564.10(STAB2):c.1870-8C>T	STAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714545	NM_017564.10(STAB2):c.1881G>A (p.Leu627=)	STAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398325	NM_017564.10(STAB2):c.1908T>G (p.Ile636Met)	STAB2 (I636M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470357	NM_017564.10(STAB2):c.1991G>A (p.Arg664Gln)	STAB2 (R664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252892	NM_017564.10(STAB2):c.2015T>C (p.Met672Thr)	STAB2 (M672T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338766	NM_017564.10(STAB2):c.2032G>A (p.Val678Met)	STAB2 (V678M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466222	NM_017564.10(STAB2):c.2075C>G (p.Ser692Cys)	STAB2 (S692C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773265	NM_017564.10(STAB2):c.2086-6C>T	LOC105369946, STAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3170804	NM_017564.10(STAB2):c.2149C>T (p.Arg717Trp)	LOC105369946, STAB2 (R717W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170805	NM_017564.10(STAB2):c.2263G>A (p.Ala755Thr)	STAB2 (A755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731012	NM_017564.10(STAB2):c.2283C>T (p.Asn761=)	STAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357674	NM_017564.10(STAB2):c.2290T>C (p.Cys764Arg)	STAB2 (C764R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170806	NM_017564.10(STAB2):c.2314G>A (p.Gly772Ser)	STAB2 (G772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170807	NM_017564.10(STAB2):c.2332T>C (p.Cys778Arg)	STAB2 (C778R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719082	NM_017564.10(STAB2):c.2487C>T (p.Ala829=)	STAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170808	NM_017564.10(STAB2):c.2521G>A (p.Ala841Thr)	STAB2 (A841T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790462	NM_017564.10(STAB2):c.2552+7C>G	STAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2407173	NM_017564.10(STAB2):c.2581G>C (p.Asp861His)	STAB2 (D861H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599489	NM_017564.10(STAB2):c.2680A>G (p.Thr894Ala)	STAB2 (T894A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305869	NM_017564.10(STAB2):c.2690G>A (p.Cys897Tyr)	STAB2 (C897Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258870	NM_017564.10(STAB2):c.2800G>A (p.Gly934Arg)	STAB2 (G934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731709	NM_017564.10(STAB2):c.2806-4A>G	STAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2512815	NM_017564.10(STAB2):c.2906G>A (p.Ser969Asn)	STAB2 (S969N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170810	NM_017564.10(STAB2):c.3100C>G (p.Pro1034Ala)	STAB2 (P1034A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289283	NM_017564.10(STAB2):c.3125T>C (p.Met1042Thr)	STAB2 (M1042T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615611	NM_017564.10(STAB2):c.3167T>G (p.Ile1056Ser)	STAB2 (I1056S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527735	NM_017564.10(STAB2):c.3188A>G (p.His1063Arg)	STAB2 (H1063R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251802	NM_017564.10(STAB2):c.3196C>G (p.Leu1066Val)	STAB2 (L1066V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552324	NM_017564.10(STAB2):c.3200G>A (p.Gly1067Asp)	STAB2 (G1067D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170811	NM_017564.10(STAB2):c.3209G>A (p.Arg1070Lys)	STAB2 (R1070K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328601	NM_017564.10(STAB2):c.3290T>G (p.Val1097Gly)	STAB2 (V1097G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727683	NM_017564.10(STAB2):c.3298-8A>G	STAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3170812	NM_017564.10(STAB2):c.3305C>T (p.Thr1102Ile)	STAB2 (T1102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643250	NM_017564.10(STAB2):c.3395G>A (p.Arg1132His)	STAB2 (R1132H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2382660	NM_017564.10(STAB2):c.3400A>G (p.Thr1134Ala)	STAB2 (T1134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527822	NM_017564.10(STAB2):c.3412C>T (p.Pro1138Ser)	STAB2 (P1138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345639	NM_017564.10(STAB2):c.3460C>T (p.Arg1154Trp)	STAB2 (R1154W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463744	NM_017564.10(STAB2):c.3461G>A (p.Arg1154Gln)	STAB2 (R1154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724767	NM_017564.10(STAB2):c.3531A>G (p.Pro1177=)	STAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3170814	NM_017564.10(STAB2):c.3592G>T (p.Val1198Phe)	STAB2 (V1198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231283	NM_017564.10(STAB2):c.3599G>A (p.Arg1200Gln)	STAB2 (R1200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781090	NM_017564.10(STAB2):c.3652A>G (p.Met1218Val)	STAB2 (M1218V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2375029	NM_017564.10(STAB2):c.3656A>G (p.His1219Arg)	STAB2 (H1219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462367	NM_017564.10(STAB2):c.3659G>A (p.Arg1220His)	STAB2 (R1220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228598	NM_017564.10(STAB2):c.3683A>C (p.Tyr1228Ser)	STAB2 (Y1228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3