ClinVar for Gene (Select 6710) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235002	NM_001355436.2(SPTB):c.865C>T (p.Arg289Cys)	SPTB (R289C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3234958	NM_001355436.2(SPTB):c.3854A>C (p.Glu1285Ala)	SPTB (E1285A)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3234822	NM_001355436.2(SPTB):c.5789_5798+1del	SPTB	Deletion (splice donor variant)	not provided	GPathogenic
Select item 3233797	NM_001355436.2(SPTB):c.6716G>A (p.Arg2239Lys)	PLEKHG3, SPTB (R2239K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169527	NM_001355436.2(SPTB):c.959A>T (p.Gln320Leu)	SPTB (Q320L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169526	NM_001355436.2(SPTB):c.827A>G (p.Tyr276Cys)	SPTB (Y276C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169525	NM_001355436.2(SPTB):c.6925G>A (p.Asp2309Asn)	PLEKHG3, SPTB (D2309N)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3169523	NM_001355436.2(SPTB):c.6542T>G (p.Met2181Arg)	SPTB (M2181R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169522	NM_001355436.2(SPTB):c.6440C>T (p.Pro2147Leu)	SPTB (P2147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169521	NM_001355436.2(SPTB):c.6391C>G (p.Pro2131Ala)	SPTB (P2131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169520	NM_001355436.2(SPTB):c.6016C>T (p.Arg2006Cys)	SPTB (R2006C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169519	NM_001355436.2(SPTB):c.5897G>T (p.Gly1966Val)	SPTB (G1966V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169518	NM_001355436.2(SPTB):c.5876T>C (p.Phe1959Ser)	SPTB (F1959S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169515	NM_001355436.2(SPTB):c.509G>A (p.Arg170His)	SPTB (R170H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169514	NM_001355436.2(SPTB):c.5044C>G (p.Arg1682Gly)	SPTB (R1682G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169513	NM_001355436.2(SPTB):c.4723G>A (p.Gly1575Arg)	SPTB (G1575R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169511	NM_001355436.2(SPTB):c.3873C>G (p.Asn1291Lys)	SPTB (N1291K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169510	NM_001355436.2(SPTB):c.3833A>G (p.Asn1278Ser)	SPTB (N1278S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169509	NM_001355436.2(SPTB):c.3662G>A (p.Arg1221Gln)	SPTB (R1221Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169508	NM_001355436.2(SPTB):c.3623G>A (p.Arg1208Gln)	SPTB (R1208Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169507	NM_001355436.2(SPTB):c.3485A>C (p.His1162Pro)	SPTB (H1162P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169506	NM_001355436.2(SPTB):c.2971A>G (p.Ile991Val)	SPTB (I991V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169505	NM_001355436.2(SPTB):c.2968A>G (p.Ile990Val)	SPTB (I990V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3169504	NM_001355436.2(SPTB):c.2813C>T (p.Ala938Val)	SPTB (A938V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169502	NM_001355436.2(SPTB):c.2762G>A (p.Arg921His)	SPTB (R921H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169501	NM_001355436.2(SPTB):c.2756A>G (p.His919Arg)	SPTB (H919R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169500	NM_001355436.2(SPTB):c.2603A>C (p.Glu868Ala)	SPTB (E868A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169498	NM_001355436.2(SPTB):c.2329G>A (p.Ala777Thr)	SPTB (A777T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169497	NM_001355436.2(SPTB):c.2243T>C (p.Phe748Ser)	SPTB (F748S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169496	NM_001355436.2(SPTB):c.1877C>A (p.Ala626Glu)	SPTB (A626E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169494	NM_001355436.2(SPTB):c.1656G>T (p.Leu552Phe)	SPTB (L552F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169493	NM_001355436.2(SPTB):c.115C>T (p.Leu39Phe)	SPTB (L39F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068238	NM_001355436.2(SPTB):c.326G>A (p.Arg109His)	SPTB (R109H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3067955	NM_001355436.2(SPTB):c.4618A>G (p.Arg1540Gly)	SPTB (R1540G)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3067641	NM_001355436.2(SPTB):c.1534T>G (p.Tyr512Asp)	SPTB (Y512D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065958	NM_001355436.2(SPTB):c.1663G>A (p.Glu555Lys)	SPTB (E555K)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3065683	NM_001355436.2(SPTB):c.2915A>G (p.Asp972Gly)	SPTB (D972G)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GUncertain significance
Select item 3062285	NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)	SPTB (W182*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3061299	NM_001355436.2(SPTB):c.4909G>A (p.Gly1637Ser)	SPTB (G1637S)	Single nucleotide variant (missense variant)	SPTB-related disorder	GUncertain significance
Select item 3059908	NM_001355436.2(SPTB):c.6831G>A (p.Leu2277=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	SPTB-related disorder	GLikely benign
Select item 3058805	NM_001355436.2(SPTB):c.435G>T (p.Leu145=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3058741	NM_001355436.2(SPTB):c.1059G>A (p.Pro353=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3058596	NM_001355436.2(SPTB):c.6498C>T (p.Pro2166=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3058203	NM_001355436.2(SPTB):c.2333C>T (p.Thr778Met)	SPTB (T778M)	Single nucleotide variant (missense variant)	SPTB-related disorder	GUncertain significance
Select item 3054778	NM_001355436.2(SPTB):c.4812G>A (p.Glu1604=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3053891	NM_001355436.2(SPTB):c.964A>G (p.Ile322Val)	SPTB (I322V)	Single nucleotide variant (missense variant)	SPTB-related disorder	GLikely benign
Select item 3052635	NM_001355436.2(SPTB):c.2946C>T (p.Asp982=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3051805	NM_001355436.2(SPTB):c.2973C>T (p.Ile991=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3051671	NM_001355436.2(SPTB):c.1092T>C (p.Val364=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3049658	NM_001355436.2(SPTB):c.3768C>T (p.His1256=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3047981	NM_001355436.2(SPTB):c.1782dup (p.Thr595fs)	SPTB (T595fs)	Duplication (frameshift variant)	SPTB-related disorder	GPathogenic
Select item 3040190	NM_001355436.2(SPTB):c.301-8_301-7insGG	SPTB	Insertion (intron variant)	SPTB-related disorder	GLikely benign
Select item 3037775	NM_001355436.2(SPTB):c.6393G>A (p.Pro2131=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3036571	NM_001355436.2(SPTB):c.3333C>T (p.Asp1111=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3035554	NM_001355436.2(SPTB):c.3241C>T (p.Gln1081Ter)	SPTB (Q1081*)	Single nucleotide variant (nonsense)	SPTB-related disorder	GLikely pathogenic
Select item 3035254	NM_001355436.2(SPTB):c.2214C>T (p.Asn738=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3032600	NM_001355436.2(SPTB):c.1152C>T (p.His384=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3031486	NM_001355436.2(SPTB):c.1305_1306del (p.Glu435fs)	SPTB (E435fs)	Microsatellite (frameshift variant)	SPTB-related disorder	GPathogenic
Select item 3030889	NM_001355436.2(SPTB):c.5211G>A (p.Arg1737=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3029012	NM_001355436.2(SPTB):c.4320C>A (p.Ala1440=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 3026899	NM_001355436.2(SPTB):c.3765-1G>A	MIR7855, SPTB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3021686	NM_001355436.2(SPTB):c.301-14del	SPTB	Deletion (intron variant)	not provided	GLikely benign
Select item 3020588	NM_001355436.2(SPTB):c.5100C>T (p.Asp1700=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018978	NM_001355436.2(SPTB):c.4593G>A (p.Thr1531=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010762	NM_001355436.2(SPTB):c.3271G>A (p.Glu1091Lys)	SPTB (E1091K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005316	NM_001355436.2(SPTB):c.2955G>A (p.Arg985=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004332	NM_001355436.2(SPTB):c.1671G>A (p.Gly557=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994518	NM_001355436.2(SPTB):c.2135C>T (p.Pro712Leu)	SPTB (P712L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994257	NM_001355436.2(SPTB):c.474+6_474+12del	SPTB	Deletion (intron variant)	not provided	GUncertain significance
Select item 2988949	NM_001355436.2(SPTB):c.5366G>A (p.Arg1789His)	SPTB (R1789H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2986930	NM_001355436.2(SPTB):c.924C>T (p.Ser308=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983775	NM_001355436.2(SPTB):c.6017G>C (p.Arg2006Pro)	SPTB (R2006P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982318	NM_001355436.2(SPTB):c.361C>T (p.Gln121Ter)	SPTB (Q121*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2976618	NM_001355436.2(SPTB):c.4563+12G>A	SPTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970702	NM_001355436.2(SPTB):c.1342-17T>G	SPTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968938	NM_001355436.2(SPTB):c.5401C>T (p.Arg1801Cys)	SPTB (R1801C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965052	NM_001355436.2(SPTB):c.4857C>A (p.Ala1619=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961896	NM_001355436.2(SPTB):c.81C>T (p.Asp27=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955753	NM_001355436.2(SPTB):c.5223G>A (p.Ala1741=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921245	NM_001355436.2(SPTB):c.3202C>T (p.Gln1068Ter)	SPTB (Q1068*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2921196	NM_001355436.2(SPTB):c.6724_6726dup (p.Ile2242_Cys2243insIle)	PLEKHG3, SPTB	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2921121	NM_001355436.2(SPTB):c.6396G>C (p.Pro2132=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921118	NM_001355436.2(SPTB):c.5506C>T (p.Arg1836Trp)	SPTB (R1836W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921077	NM_001355436.2(SPTB):c.443G>T (p.Gly148Val)	SPTB (G148V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921057	NM_001355436.2(SPTB):c.2499G>A (p.Val833=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921054	NM_001355436.2(SPTB):c.6346-4G>C	SPTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921031	NM_001355436.2(SPTB):c.5275G>A (p.Asp1759Asn)	SPTB (D1759N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2921014	NM_001355436.2(SPTB):c.4278C>T (p.Asp1426=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920993	NM_001355436.2(SPTB):c.5197del (p.Arg1733fs)	SPTB (R1733fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2920990	NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys)	SPTB (Q2127K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920969	NM_001355436.2(SPTB):c.753C>T (p.Leu251=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920950	NM_001355436.2(SPTB):c.3369_3370del (p.Lys1126fs)	SPTB (K1126fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2920938	NM_001355436.2(SPTB):c.1603C>A (p.Gln535Lys)	SPTB (Q535K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920925	NM_001355436.2(SPTB):c.1441C>T (p.Leu481=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920924	NM_001355436.2(SPTB):c.1425G>A (p.Glu475=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920882	NM_001355436.2(SPTB):c.1189del (p.Glu397fs)	SPTB (E397fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2920829	NM_001355436.2(SPTB):c.921C>T (p.Tyr307=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920755	NM_001355436.2(SPTB):c.475-5C>T	SPTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918524	NM_001355436.2(SPTB):c.5414C>T (p.Thr1805Met)	SPTB (T1805M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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