ClinVar for Gene (Select 57731) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370008	NM_020971.3(SPTBN4):c.1183G>T (p.Gly395Cys)	SPTBN4 (G395C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370007	NM_020971.3(SPTBN4):c.1743G>C (p.Glu581Asp)	SPTBN4 (E581D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369783	NM_020971.3(SPTBN4):c.1799G>A (p.Arg600His)	SPTBN4 (R600H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365851	NM_020971.3(SPTBN4):c.3008T>G (p.Val1003Gly)	SPTBN4 (V1003G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365850	NM_020971.3(SPTBN4):c.5693C>T (p.Ala1898Val)	SPTBN4 (A1898V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365657	NM_020971.3(SPTBN4):c.2242G>A (p.Ala748Thr)	SPTBN4 (A743T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362729	NM_020971.3(SPTBN4):c.2535_2554del (p.Gly846fs)	SPTBN4 (G846fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 3362455	NM_020971.3(SPTBN4):c.1217T>C (p.Leu406Pro)	SPTBN4 (L406P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 3360116	NM_020971.3(SPTBN4):c.7234C>A (p.Pro2412Thr)	LOC130064467, SPTBN4 (P2407T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359861	NM_020971.3(SPTBN4):c.5725C>T (p.His1909Tyr)	SPTBN4 (H1909Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357982	NM_020971.3(SPTBN4):c.7678A>G (p.Ser2560Gly)	SPTBN4 (S2555G +1 more)	Single nucleotide variant (missense variant)	SPTBN4-related disorder	GUncertain significance
Select item 3352633	NM_020971.3(SPTBN4):c.7117C>A (p.Arg2373=)	LOC130064467, SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3322475	NM_020971.3(SPTBN4):c.2438G>T (p.Arg813Leu)	SPTBN4 (R813L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322474	NM_020971.3(SPTBN4):c.1574G>T (p.Gly525Val)	SPTBN4 (G525V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322473	NM_020971.3(SPTBN4):c.7322C>T (p.Ser2441Leu)	SPTBN4 (S2441L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322472	NM_020971.3(SPTBN4):c.4141G>T (p.Val1381Leu)	SPTBN4 (V1381L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322471	NM_020971.3(SPTBN4):c.5146G>C (p.Gly1716Arg)	SPTBN4 (G1716R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322470	NM_020971.3(SPTBN4):c.1969G>A (p.Glu657Lys)	SPTBN4 (E652K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322469	NM_020971.3(SPTBN4):c.2976C>G (p.His992Gln)	SPTBN4 (H992Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322468	NM_020971.3(SPTBN4):c.2591C>T (p.Ala864Val)	SPTBN4 (A864V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322467	NM_020971.3(SPTBN4):c.3137C>T (p.Ala1046Val)	SPTBN4 (A1041V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322466	NM_020971.3(SPTBN4):c.2297A>G (p.Glu766Gly)	SPTBN4 (E761G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322465	NM_020971.3(SPTBN4):c.2106G>T (p.Lys702Asn)	SPTBN4 (K697N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322464	NM_020971.3(SPTBN4):c.3496C>T (p.Pro1166Ser)	SPTBN4 (P1161S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322463	NM_020971.3(SPTBN4):c.4619A>C (p.Gln1540Pro)	SPTBN4 (Q1540P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322462	NM_020971.3(SPTBN4):c.6839G>C (p.Ser2280Thr)	SPTBN4 (S2280T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322461	NM_020971.3(SPTBN4):c.1238G>A (p.Arg413Gln)	SPTBN4 (R413Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322460	NM_020971.3(SPTBN4):c.4832A>C (p.Glu1611Ala)	SPTBN4 (E1611A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322459	NM_020971.3(SPTBN4):c.5617A>C (p.Met1873Leu)	SPTBN4 (M1873L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322458	NM_020971.3(SPTBN4):c.5575C>T (p.Arg1859Cys)	SPTBN4 (R535C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322457	NM_020971.3(SPTBN4):c.5323G>A (p.Glu1775Lys)	SPTBN4 (E1775K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322456	NM_020971.3(SPTBN4):c.2479G>A (p.Gly827Arg)	SPTBN4 (G827R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322455	NM_020971.3(SPTBN4):c.3374C>T (p.Ala1125Val)	SPTBN4 (A1120V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322454	NM_020971.3(SPTBN4):c.2507T>A (p.Leu836Gln)	SPTBN4 (L831Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322453	NM_020971.3(SPTBN4):c.5431G>A (p.Gly1811Arg)	SPTBN4 (G1811R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254916	NM_020971.3(SPTBN4):c.5173C>T (p.Gln1725Ter)	SPTBN4 (Q1725* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 3254683	NM_020971.3(SPTBN4):c.3319G>A (p.Ala1107Thr)	SPTBN4 (A1102T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 3242563	NM_020971.3(SPTBN4):c.1360C>T (p.Gln454Ter)	SPTBN4 (Q454*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 3239381	NM_020971.3(SPTBN4):c.3816C>T (p.Tyr1272=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239201	NM_020971.3(SPTBN4):c.1467G>A (p.Ala489=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239036	NM_020971.3(SPTBN4):c.1491C>T (p.Ala497=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169629	NM_020971.3(SPTBN4):c.953C>T (p.Ala318Val)	SPTBN4 (A318V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169628	NM_020971.3(SPTBN4):c.892G>A (p.Gly298Arg)	SPTBN4 (G298R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169626	NM_020971.3(SPTBN4):c.7685G>A (p.Arg2562His)	SPTBN4 (R2562H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169625	NM_020971.3(SPTBN4):c.7679G>T (p.Ser2560Ile)	SPTBN4 (S2560I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169624	NM_020971.3(SPTBN4):c.7603T>C (p.Trp2535Arg)	SPTBN4 (W2530R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169623	NM_020971.3(SPTBN4):c.7597G>T (p.Ala2533Ser)	SPTBN4 (A2533S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169622	NM_020971.3(SPTBN4):c.7549G>A (p.Gly2517Ser)	SPTBN4 (G2512S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169621	NM_020971.3(SPTBN4):c.7418C>T (p.Pro2473Leu)	SPTBN4 (P2468L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169620	NM_020971.3(SPTBN4):c.704C>T (p.Ser235Phe)	SPTBN4 (S235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169619	NM_020971.3(SPTBN4):c.6912G>T (p.Glu2304Asp)	SPTBN4 (E2304D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169618	NM_020971.3(SPTBN4):c.6863A>T (p.Gln2288Leu)	SPTBN4 (Q2283L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169617	NM_020971.3(SPTBN4):c.6664G>A (p.Ala2222Thr)	SPTBN4 (A2217T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169616	NM_020971.3(SPTBN4):c.6584T>C (p.Leu2195Pro)	SPTBN4 (L2195P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169615	NM_020971.3(SPTBN4):c.6536T>A (p.Val2179Glu)	SPTBN4 (V2174E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169614	NM_020971.3(SPTBN4):c.6437C>T (p.Pro2146Leu)	SPTBN4 (P2141L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169613	NM_020971.3(SPTBN4):c.6385C>A (p.Leu2129Met)	SPTBN4 (L2129M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169612	NM_020971.3(SPTBN4):c.6170C>T (p.Ala2057Val)	SPTBN4 (A2052V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169611	NM_020971.3(SPTBN4):c.5830G>A (p.Ala1944Thr)	SPTBN4 (A1944T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169610	NM_020971.3(SPTBN4):c.5827G>A (p.Asp1943Asn)	SPTBN4 (D1943N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169609	NM_020971.3(SPTBN4):c.5645A>G (p.His1882Arg)	SPTBN4 (H1882R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169608	NM_020971.3(SPTBN4):c.5500C>T (p.Arg1834Trp)	SPTBN4 (R1834W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169606	NM_020971.3(SPTBN4):c.5285T>C (p.Val1762Ala)	SPTBN4 (V438A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169605	NM_020971.3(SPTBN4):c.5242G>T (p.Val1748Leu)	SPTBN4 (V424L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169604	NM_020971.3(SPTBN4):c.5240A>C (p.Glu1747Ala)	SPTBN4 (E423A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169603	NM_020971.3(SPTBN4):c.5218G>C (p.Glu1740Gln)	SPTBN4 (E1740Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169602	NM_020971.3(SPTBN4):c.5069T>A (p.Met1690Lys)	SPTBN4 (M1690K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169600	NM_020971.3(SPTBN4):c.4615A>G (p.Met1539Val)	SPTBN4 (M1539V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169598	NM_020971.3(SPTBN4):c.4156G>A (p.Gly1386Ser)	SPTBN4 (G1386S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169597	NM_020971.3(SPTBN4):c.4090G>C (p.Glu1364Gln)	SPTBN4 (E40Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169596	NM_020971.3(SPTBN4):c.400C>T (p.Arg134Cys)	SPTBN4 (R134C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169595	NM_020971.3(SPTBN4):c.3844C>T (p.Arg1282Trp)	SPTBN4 (R1282W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169594	NM_020971.3(SPTBN4):c.3766C>G (p.Gln1256Glu)	SPTBN4 (Q1256E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169593	NM_020971.3(SPTBN4):c.3248C>G (p.Ala1083Gly)	SPTBN4 (A1078G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169592	NM_020971.3(SPTBN4):c.3089C>T (p.Ala1030Val)	SPTBN4 (A1030V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169591	NM_020971.3(SPTBN4):c.2852G>A (p.Gly951Asp)	SPTBN4 (G946D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169590	NM_020971.3(SPTBN4):c.2198G>A (p.Gly733Asp)	SPTBN4 (G733D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169589	NM_020971.3(SPTBN4):c.1773G>A (p.Val591=)	SPTBN4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3169588	NM_020971.3(SPTBN4):c.1681C>T (p.Arg561Trp)	SPTBN4 (R561W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169587	NM_020971.3(SPTBN4):c.1582C>T (p.Arg528Trp)	SPTBN4 (R528W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169586	NM_020971.3(SPTBN4):c.1577C>G (p.Ala526Gly)	SPTBN4 (A526G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169585	NM_020971.3(SPTBN4):c.1444G>A (p.Glu482Lys)	SPTBN4 (E482K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169584	NM_020971.3(SPTBN4):c.1385C>G (p.Pro462Arg)	SPTBN4 (P462R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169583	NM_020971.3(SPTBN4):c.1266T>G (p.Ile422Met)	SPTBN4 (I422M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169582	NM_020971.3(SPTBN4):c.115G>T (p.Ala39Ser)	SPTBN4 (A39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065352	NM_020971.3(SPTBN4):c.2903+2T>C	SPTBN4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3055019	NM_020971.3(SPTBN4):c.1537G>A (p.Val513Ile)	SPTBN4 (V513I)	Single nucleotide variant (missense variant)	SPTBN4-related disorder	GLikely benign
Select item 3053676	NM_020971.3(SPTBN4):c.1665+6_1665+7dup	SPTBN4	Duplication (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 3053430	NM_020971.3(SPTBN4):c.4035G>A (p.Arg1345=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3053045	NM_020971.3(SPTBN4):c.1008A>G (p.Lys336=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3052333	NM_020971.3(SPTBN4):c.3663G>A (p.Ala1221=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3048556	NM_020971.3(SPTBN4):c.6720G>A (p.Ala2240=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3048475	NM_020971.3(SPTBN4):c.225C>T (p.Leu75=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3047855	NM_020971.3(SPTBN4):c.4647G>A (p.Ala1549=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3047350	NM_020971.3(SPTBN4):c.766C>A (p.Arg256=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3047128	NM_020971.3(SPTBN4):c.5676G>A (p.Arg1892=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 3046969	NM_020971.3(SPTBN4):c.1665+10G>C	SPTBN4	Single nucleotide variant (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 3045569	NM_020971.3(SPTBN4):c.1665+9G>T	SPTBN4	Single nucleotide variant (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 3043843	NM_020971.3(SPTBN4):c.3996G>A (p.Thr1332=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign

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