ClinVar for Gene (Select 6711) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069000	NM_003128.3(SPTBN1):c.4861G>A (p.Ala1621Thr)	SPTBN1 (A1608T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068374	NM_003128.3(SPTBN1):c.539T>C (p.Leu180Pro)	SPTBN1 (L167P +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3067892	NM_003128.3(SPTBN1):c.6599T>G (p.Met2200Arg)	SPTBN1, SPTBN1-AS2 (M2200R)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3067455	NM_003128.3(SPTBN1):c.2086C>T (p.Gln696Ter)	SPTBN1 (Q683* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3066027	NM_003128.3(SPTBN1):c.2489G>T (p.Arg830Leu)	SPTBN1 (R817L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3065850	NM_003128.3(SPTBN1):c.4805C>G (p.Ala1602Gly)	SPTBN1 (A1589G +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3065849	NM_003128.3(SPTBN1):c.3278C>G (p.Thr1093Ser)	SPTBN1 (T1080S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3065485	NM_003128.3(SPTBN1):c.6988C>T (p.Pro2330Ser)	SPTBN1, SPTBN1-AS2 (P2330S)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3064739	NM_003128.3(SPTBN1):c.1493G>A (p.Arg498His)	SPTBN1 (R485H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3062177	NM_003128.3(SPTBN1):c.5474A>G (p.His1825Arg)	SPTBN1 (H1812R +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3062034	NM_003128.3(SPTBN1):c.3941dup (p.Leu1314fs)	SPTBN1 (L1301fs +1 more)	Duplication (frameshift variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3037683	NM_003128.3(SPTBN1):c.3030A>G (p.Ala1010=)	SPTBN1	Single nucleotide variant (synonymous variant)	SPTBN1-related condition	GLikely benign
Select item 3033566	NM_003128.3(SPTBN1):c.400G>C (p.Gly134Arg)	SPTBN1 (G121R +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 3033521	NM_003128.3(SPTBN1):c.4324C>T (p.Gln1442Ter)	SPTBN1 (Q1429* +1 more)	Single nucleotide variant (nonsense)	SPTBN1-related condition	GUncertain significance
Select item 3032760	NM_003128.3(SPTBN1):c.5653C>T (p.Arg1885Cys)	SPTBN1 (R1872C +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GLikely benign
Select item 3030068	NM_003128.3(SPTBN1):c.4765G>A (p.Glu1589Lys)	SPTBN1 (E1576K +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GLikely benign
Select item 3029774	NM_003128.3(SPTBN1):c.3716G>A (p.Gly1239Glu)	SPTBN1 (G1226E +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 3027271	NM_003128.3(SPTBN1):c.1360C>T (p.Leu454Phe)	SPTBN1 (L441F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027213	NM_003128.3(SPTBN1):c.5516T>C (p.Val1839Ala)	SPTBN1 (V1826A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027076	NM_003128.3(SPTBN1):c.32A>G (p.Asn11Ser)	SPTBN1, SPTBN1-AS1 (N11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025212	NM_003128.3(SPTBN1):c.1953A>G (p.Glu651=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920715	NM_003128.3(SPTBN1):c.328A>T (p.Ile110Phe)	SPTBN1 (I110F +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2820639	NM_003128.3(SPTBN1):c.485T>C (p.Ile162Thr)	SPTBN1 (I162T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763784	NM_003128.3(SPTBN1):c.6103G>A (p.Gly2035Arg)	SPTBN1 (G2022R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752390	NM_003128.3(SPTBN1):c.6419G>A (p.Arg2140Gln)	SPTBN1 (R2127Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707838	NM_003128.3(SPTBN1):c.5681A>C (p.Lys1894Thr)	SPTBN1 (K1881T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692569	NM_003128.3(SPTBN1):c.4997+5G>C	SPTBN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2692464	NM_003128.3(SPTBN1):c.6046+5G>A	SPTBN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2690153	NM_003128.3(SPTBN1):c.5270C>T (p.Thr1757Met)	SPTBN1 (T1744M +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690152	NM_003128.3(SPTBN1):c.2431C>T (p.Pro811Ser)	SPTBN1 (P798S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690151	NM_003128.3(SPTBN1):c.1328G>A (p.Arg443His)	SPTBN1 (R430H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690150	NM_003128.3(SPTBN1):c.1573G>A (p.Glu525Lys)	SPTBN1 (E512K +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690149	NM_003128.3(SPTBN1):c.3728C>T (p.Ser1243Leu)	SPTBN1 (S1230L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2682266	NM_003128.3(SPTBN1):c.220C>T (p.Arg74Trp)	SPTBN1 (R61W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2674610	NM_003128.3(SPTBN1):c.176C>T (p.Thr59Ile)	SPTBN1 (T46I +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 2664976	NM_003128.3(SPTBN1):c.6898C>T (p.Gln2300Ter)	SPTBN1, SPTBN1-AS2 (Q2300*)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2663953	NM_003128.3(SPTBN1):c.553A>T (p.Met185Leu)	SPTBN1 (M172L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2662594	NM_003128.3(SPTBN1):c.6949A>G (p.Thr2317Ala)	SPTBN1, SPTBN1-AS2 (T2317A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650935	NM_003128.3(SPTBN1):c.7026C>G (p.Pro2342=)	SPTBN1, SPTBN1-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650934	NM_003128.3(SPTBN1):c.7015G>A (p.Glu2339Lys)	SPTBN1, SPTBN1-AS2 (E2339K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650933	NM_003128.3(SPTBN1):c.6744C>G (p.Pro2248=)	SPTBN1, SPTBN1-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650932	NM_003128.3(SPTBN1):c.6150C>T (p.Asp2050=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650931	NM_003128.3(SPTBN1):c.6105A>C (p.Gly2035=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650930	NM_003128.3(SPTBN1):c.5773C>T (p.Leu1925Phe)	SPTBN1 (L1912F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650929	NM_003128.3(SPTBN1):c.5730A>G (p.Thr1910=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2650928	NM_003128.3(SPTBN1):c.4800C>T (p.Asp1600=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650927	NM_003128.3(SPTBN1):c.3993C>A (p.Asp1331Glu)	SPTBN1 (D1318E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2650926	NM_003128.3(SPTBN1):c.3354C>T (p.Tyr1118=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650925	NM_003128.3(SPTBN1):c.3261G>C (p.Ser1087=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650924	NM_003128.3(SPTBN1):c.2747T>C (p.Met916Thr)	LOC129933746, SPTBN1 (M903T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650923	NM_003128.3(SPTBN1):c.2601G>A (p.Glu867=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650922	NM_003128.3(SPTBN1):c.2310C>T (p.Ser770=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650921	NM_003128.3(SPTBN1):c.2049C>T (p.Phe683=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650920	NM_003128.3(SPTBN1):c.1749G>A (p.Arg583=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650919	NM_003128.3(SPTBN1):c.1492C>T (p.Arg498Cys)	SPTBN1 (R485C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650918	NM_003128.3(SPTBN1):c.330C>G (p.Ile110Met)	SPTBN1 (I110M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650917	NM_003128.3(SPTBN1):c.165G>C (p.Val55=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650916	NM_003128.3(SPTBN1):c.105C>T (p.Ser35=)	SPTBN1, SPTBN1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637518	NM_003128.3(SPTBN1):c.6920C>A (p.Ser2307Tyr)	SPTBN1, SPTBN1-AS2 (S2307Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637460	NM_003128.3(SPTBN1):c.5595G>C (p.Glu1865Asp)	SPTBN1 (E1852D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636938	NM_003128.3(SPTBN1):c.2223G>C (p.Glu741Asp)	SPTBN1 (E728D +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2635604	NM_003128.3(SPTBN1):c.6559A>G (p.Thr2187Ala)	SPTBN1, SPTBN1-AS2 (T2187A)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2632345	NM_003128.3(SPTBN1):c.2522G>A (p.Arg841Gln)	SPTBN1 (R828Q +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2631672	NM_003128.3(SPTBN1):c.616A>G (p.Met206Val)	SPTBN1 (M193V +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2631404	NM_003128.3(SPTBN1):c.952A>G (p.Ile318Val)	SPTBN1 (I305V +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2631280	NM_003128.3(SPTBN1):c.5123A>T (p.Asp1708Val)	SPTBN1 (D1695V +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2630453	NM_003128.3(SPTBN1):c.752T>G (p.Leu251Trp)	SPTBN1 (L238W +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2630244	NM_003128.3(SPTBN1):c.2680C>G (p.Leu894Val)	SPTBN1 (L881V +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2630239	NM_003128.3(SPTBN1):c.1141T>C (p.Tyr381His)	SPTBN1 (Y368H +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related condition	GUncertain significance
Select item 2627835	NM_003128.3(SPTBN1):c.1922G>A (p.Trp641Ter)	SPTBN1 (W628* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627595	NM_003128.3(SPTBN1):c.3011A>G (p.Asp1004Gly)	SPTBN1 (D1004G +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2618311	NM_003128.3(SPTBN1):c.6457G>A (p.Gly2153Ser)	SPTBN1, SPTBN1-AS2 (G2153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617844	NM_003128.3(SPTBN1):c.3730G>T (p.Asp1244Tyr)	SPTBN1 (D1231Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613776	NM_003128.3(SPTBN1):c.6299C>A (p.Pro2100Gln)	SPTBN1 (P2087Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606581	NM_003128.3(SPTBN1):c.6272A>T (p.Gln2091Leu)	SPTBN1 (Q2078L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591843	NM_003128.3(SPTBN1):c.6959C>T (p.Thr2320Met)	SPTBN1, SPTBN1-AS2 (T2320M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2582659	NM_003128.3(SPTBN1):c.6883A>G (p.Met2295Val)	SPTBN1, SPTBN1-AS2 (M2295V)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2582581	NM_003128.3(SPTBN1):c.641A>G (p.Lys214Arg)	SPTBN1 (K201R +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2581890	NM_003128.3(SPTBN1):c.2653G>A (p.Glu885Lys)	SPTBN1 (E872K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581431	NM_003128.3(SPTBN1):c.5304_5305del (p.Gly1769fs)	SPTBN1 (G1756fs +1 more)	Deletion (frameshift variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 2579760	NM_003128.3(SPTBN1):c.4630A>G (p.Ile1544Val)	SPTBN1 (I1531V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576107	NM_003128.3(SPTBN1):c.511G>C (p.Glu171Gln)	SPTBN1 (E158Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576069	NM_003128.3(SPTBN1):c.7034G>A (p.Arg2345Gln)	SPTBN1, SPTBN1-AS2 (R2345Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575860	NM_003128.3(SPTBN1):c.2126A>C (p.His709Pro)	SPTBN1 (H696P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574429	NM_003128.3(SPTBN1):c.752T>C (p.Leu251Ser)	SPTBN1 (L238S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2574257	NM_003128.3(SPTBN1):c.2267T>G (p.Ile756Ser)	SPTBN1 (I743S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573499	NM_003128.3(SPTBN1):c.4166G>A (p.Cys1389Tyr)	SPTBN1 (C1376Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556768	NM_003128.3(SPTBN1):c.3313G>A (p.Glu1105Lys)	SPTBN1 (E1092K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553947	NM_003128.3(SPTBN1):c.3712G>C (p.Asp1238His)	SPTBN1 (D1225H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553320	NM_003128.3(SPTBN1):c.1975A>C (p.Lys659Gln)	SPTBN1 (K646Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530903	NM_003128.3(SPTBN1):c.2506G>C (p.Glu836Gln)	SPTBN1 (E836Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528430	NM_003128.3(SPTBN1):c.5405C>T (p.Ala1802Val)	SPTBN1 (A1789V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527330	NM_003128.3(SPTBN1):c.1960A>G (p.Ile654Val)	SPTBN1 (I641V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2525483	NM_003128.3(SPTBN1):c.5368C>G (p.Leu1790Val)	SPTBN1 (L1777V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524782	NM_003128.3(SPTBN1):c.6041G>A (p.Arg2014Lys)	SPTBN1 (R2014K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521277	NM_003128.3(SPTBN1):c.4813G>A (p.Glu1605Lys)	SPTBN1 (E1605K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521145	NM_003128.3(SPTBN1):c.71G>A (p.Arg24His)	SPTBN1, SPTBN1-AS1 (R24H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520171	NM_003128.3(SPTBN1):c.581A>G (p.Asn194Ser)	SPTBN1 (N181S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515539	NM_003128.3(SPTBN1):c.4078A>G (p.Lys1360Glu)	SPTBN1 (K1360E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2509661	NM_003128.3(SPTBN1):c.6955A>G (p.Ser2319Gly)	SPTBN1, SPTBN1-AS2 (S2319G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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