SPTBN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
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 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 2650916	NM_003128.3(SPTBN1):c.105C>T (p.Ser35=)	SPTBN1, SPTBN1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307692	NM_003128.3(SPTBN1):c.113G>A (p.Arg38Gln)	SPTBN1, SPTBN1-AS1 (R38Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315761	NM_003128.3(SPTBN1):c.130C>T (p.Arg44Cys)	SPTBN1, SPTBN1-AS1 (R44C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711960	NM_003128.3(SPTBN1):c.160_161delinsTG (p.Ala54Cys)	SPTBN1 (A41C +1 more)	Indel (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 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 2438401	NM_003128.3(SPTBN1):c.176C>G (p.Thr59Ser)	SPTBN1 (T46S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 2256233	NM_003128.3(SPTBN1):c.209G>A (p.Arg70His)	SPTBN1 (R57H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 451355	NM_003128.3(SPTBN1):c.259A>T (p.Met87Leu)	SPTBN1 (M87L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 721896	NM_003128.3(SPTBN1):c.336C>T (p.Cys112=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3033566	NM_003128.3(SPTBN1):c.400G>C (p.Gly134Arg)	SPTBN1 (G121R +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related disorder	GUncertain significance
Select item 1727059	NM_003128.3(SPTBN1):c.430C>T (p.Arg144Trp)	SPTBN1 (R131W +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1256058	NM_003128.3(SPTBN1):c.469T>G (p.Phe157Val)	SPTBN1 (F144V +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3255069	NM_003128.3(SPTBN1):c.475-1G>A	SPTBN1	Single nucleotide variant (splice acceptor variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
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 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 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 1318958	NM_003128.3(SPTBN1):c.543GTG[1] (p.Trp182del)	SPTBN1 (W169del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 1708675	NM_003128.3(SPTBN1):c.546G>T (p.Trp182Cys)	SPTBN1 (W169C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195995	NM_003128.3(SPTBN1):c.549C>A (p.Cys183Ter)	SPTBN1 (C183* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
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 988771	NM_003128.3(SPTBN1):c.567-2_584delinsTTTTCCCTTCTGCTTTG	SPTBN1	Indel (splice acceptor variant)	Intellectual disability +1 more	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 1685453	NM_003128.3(SPTBN1):c.586C>T (p.His196Tyr)	SPTBN1 (H183Y +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3169551	NM_003128.3(SPTBN1):c.603C>G (p.Ser201Arg)	SPTBN1 (S188R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1229542	NM_003128.3(SPTBN1):c.612C>T (p.Asp204=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 636237	NM_003128.3(SPTBN1):c.613G>A (p.Gly205Ser)	SPTBN1 (G205S +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related neurodevelopmental disease	GUncertain significance
Select item 1195996	NM_003128.3(SPTBN1):c.614G>A (p.Gly205Asp)	SPTBN1 (G205D +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 2631672	NM_003128.3(SPTBN1):c.616A>G (p.Met206Val)	SPTBN1 (M193V +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related disorder	GUncertain significance
Select item 2183512	NM_003128.3(SPTBN1):c.626A>G (p.Asn209Ser)	SPTBN1 (N196S +1 more)	Single nucleotide variant (missense variant)	not provided	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 1701907	NM_003128.3(SPTBN1):c.646C>T (p.Arg216Trp)	SPTBN1 (R203W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2308707	NM_003128.3(SPTBN1):c.647G>A (p.Arg216Gln)	SPTBN1 (R216Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710232	NM_003128.3(SPTBN1):c.666T>A (p.Phe222Leu)	SPTBN1 (F209L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2308141	NM_003128.3(SPTBN1):c.677A>G (p.Lys226Arg)	SPTBN1 (K213R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430319	NM_003128.3(SPTBN1):c.688G>A (p.Ala230Thr)	SPTBN1 (A217T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1685145	NM_003128.3(SPTBN1):c.718C>G (p.Leu240Val)	SPTBN1 (L227V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700128	NM_003128.3(SPTBN1):c.748C>G (p.Leu250Val)	SPTBN1 (L237V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1195997	NM_003128.3(SPTBN1):c.749T>G (p.Leu250Arg)	SPTBN1 (L250R +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 2630453	NM_003128.3(SPTBN1):c.752T>G (p.Leu251Trp)	SPTBN1 (L238W +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related disorder	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 717147	NM_003128.3(SPTBN1):c.764-4A>G	SPTBN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1895412	NM_003128.3(SPTBN1):c.772G>A (p.Val258Met)	SPTBN1 (V245M +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1172531	NM_003128.3(SPTBN1):c.803C>G (p.Thr268Ser)	SPTBN1 (T255S +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related disorder	GPathogenic
Select item 1321938	NM_003128.3(SPTBN1):c.811G>A (p.Val271Met)	SPTBN1 (V258M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2444107	NM_003128.3(SPTBN1):c.865C>T (p.Arg289Ter)	SPTBN1 (R276* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1321402	NM_003128.3(SPTBN1):c.890C>G (p.Ala297Gly)	SPTBN1 (A284G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3169557	NM_003128.3(SPTBN1):c.932C>T (p.Ala311Val)	SPTBN1 (A298V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 disorder	GUncertain significance
Select item 3169558	NM_003128.3(SPTBN1):c.960A>C (p.Gln320His)	SPTBN1 (Q320H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685454	NM_003128.3(SPTBN1):c.1043G>C (p.Arg348Pro)	SPTBN1 (R335P +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3250868	NM_003128.3(SPTBN1):c.1063A>G (p.Lys355Glu)	SPTBN1 (K342E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239403	NM_003128.3(SPTBN1):c.1072G>A (p.Glu358Lys)	SPTBN1 (E345K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340427	NM_003128.3(SPTBN1):c.1133A>G (p.Gln378Arg)	SPTBN1 (Q365R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 disorder	GUncertain significance
Select item 2244720	NM_003128.3(SPTBN1):c.1146G>T (p.Met382Ile)	SPTBN1 (M369I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699174	NM_003128.3(SPTBN1):c.1226C>T (p.Ala409Val)	SPTBN1 (A396V +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely benign
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 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 2214730	NM_003128.3(SPTBN1):c.1363C>T (p.Pro455Ser)	SPTBN1 (P442S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805969	NM_003128.3(SPTBN1):c.1429C>T (p.Arg477Cys)	SPTBN1 (R464C +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 716683	NM_003128.3(SPTBN1):c.1470C>T (p.Ala490=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1315858	NM_003128.3(SPTBN1):c.1471G>C (p.Glu491Gln)	SPTBN1 (E478Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255399	NM_003128.3(SPTBN1):c.1472A>G (p.Glu491Gly)	SPTBN1 (E478G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2386457	NM_003128.3(SPTBN1):c.1553G>A (p.Arg518Lys)	SPTBN1 (R505K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3169528	NM_003128.3(SPTBN1):c.1635T>A (p.Asp545Glu)	SPTBN1 (D532E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773647	NM_003128.3(SPTBN1):c.1645-4A>G	SPTBN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2219084	NM_003128.3(SPTBN1):c.1658C>G (p.Ser553Cys)	SPTBN1 (S540C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314374	NM_003128.3(SPTBN1):c.1685G>A (p.Gly562Asp)	SPTBN1 (G562D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251503	NM_003128.3(SPTBN1):c.1707G>A (p.Lys569=)	SPTBN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1706395	NM_003128.3(SPTBN1):c.1712C>T (p.Thr571Ile)	SPTBN1 (T558I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3169530	NM_003128.3(SPTBN1):c.1717G>A (p.Val573Ile)	SPTBN1 (V560I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650920	NM_003128.3(SPTBN1):c.1749G>A (p.Arg583=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250656	NM_003128.3(SPTBN1):c.1770C>T (p.Ser590=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234545	NM_003128.3(SPTBN1):c.1792G>A (p.Gly598Arg)	SPTBN1 (G585R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2455799	NM_003128.3(SPTBN1):c.1829G>A (p.Arg610Gln)	SPTBN1 (R610Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2167424	NM_003128.3(SPTBN1):c.1840G>A (p.Ala614Thr)	SPTBN1 (A601T +1 more)	Single nucleotide variant (missense variant)	not provided	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 3025212	NM_003128.3(SPTBN1):c.1953A>G (p.Glu651=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3169531	NM_003128.3(SPTBN1):c.2016C>G (p.Ser672Arg)	SPTBN1 (S659R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650921	NM_003128.3(SPTBN1):c.2049C>T (p.Phe683=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2400362	NM_003128.3(SPTBN1):c.2135C>T (p.Ser712Leu)	SPTBN1 (S699L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2501140	NM_003128.3(SPTBN1):c.2168G>A (p.Arg723Gln)	SPTBN1 (R710Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2436457	NM_003128.3(SPTBN1):c.2207G>T (p.Arg736Leu)	SPTBN1 (R723L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3169532	NM_003128.3(SPTBN1):c.2215C>T (p.Arg739Cys)	SPTBN1 (R739C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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