6711[geneid] - 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	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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-AS1, SPTBN1 (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 3322433	NM_003128.3(SPTBN1):c.110C>T (p.Ala37Val)	SPTBN1, SPTBN1-AS1 (A37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3364498	NM_003128.3(SPTBN1):c.148+32312C>T	SPTBN1 (Q34*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3346678	NM_003128.3(SPTBN1):c.148+32323T>C	SPTBN1	Single nucleotide variant (intron variant +1 more)	SPTBN1-related disorder	GUncertain significance
Select item 3349082	NM_003128.3(SPTBN1):c.148+32331C>A	SPTBN1	Single nucleotide variant (intron variant)	SPTBN1-related disorder	GLikely benign
Select item 3367778	NM_003128.3(SPTBN1):c.149A>T (p.Asp50Val)	SPTBN1 (D37V +1 more)	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 3322438	NM_003128.3(SPTBN1):c.215C>G (p.Ser72Cys)	SPTBN1 (S59C +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 3375963	NM_003128.3(SPTBN1):c.253G>C (p.Gly85Arg)	SPTBN1 (G72R +1 more)	Single nucleotide variant (missense variant)	not provided	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 3257207	NM_003128.3(SPTBN1):c.282C>T (p.Val94=)	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 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 3448975	NM_003128.3(SPTBN1):c.340G>C (p.Glu114Gln)	SPTBN1 (E101Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3365618	NM_003128.3(SPTBN1):c.461T>G (p.Ile154Ser)	SPTBN1 (I141S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372571	NM_003128.3(SPTBN1):c.467G>A (p.Arg156His)	SPTBN1 (R143H +1 more)	Single nucleotide variant (missense variant)	not provided	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 3364069	NM_003128.3(SPTBN1):c.530A>G (p.Asp177Gly)	SPTBN1 (D164G +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 3388145	NM_003128.3(SPTBN1):c.699C>T (p.Asn233=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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/Likely benign
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 3393610	NM_003128.3(SPTBN1):c.790A>C (p.Lys264Gln)	SPTBN1 (K264Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 3390729	NM_003128.3(SPTBN1):c.838A>G (p.Met280Val)	SPTBN1 (M267V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 specified +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 3322435	NM_003128.3(SPTBN1):c.968_969insA (p.Ile324fs)	SPTBN1 (I324fs +1 more)	Insertion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3369423	NM_003128.3(SPTBN1):c.995A>T (p.Asn332Ile)	SPTBN1 (N319I +1 more)	Single nucleotide variant (missense variant)	not provided	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 3365619	NM_003128.3(SPTBN1):c.1060C>T (p.Pro354Ser)	SPTBN1 (P341S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3322429	NM_003128.3(SPTBN1):c.1065A>G (p.Lys355=)	SPTBN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3373057	NM_003128.3(SPTBN1):c.1082A>G (p.Asn361Ser)	SPTBN1 (N348S +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 3369308	NM_003128.3(SPTBN1):c.1136A>C (p.Lys379Thr)	SPTBN1 (K366T +1 more)	Single nucleotide variant (missense variant)	not provided	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 +1 more	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 3392606	NM_003128.3(SPTBN1):c.1221A>C (p.Glu407Asp)	SPTBN1 (E394D +1 more)	Single nucleotide variant (missense variant)	not provided	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 3364008	NM_003128.3(SPTBN1):c.1245A>G (p.Ile415Met)	SPTBN1 (I402M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375956	NM_003128.3(SPTBN1):c.1258C>G (p.Leu420Val)	SPTBN1 (L407V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3448973	NM_003128.3(SPTBN1):c.1273C>T (p.Arg425Cys)	SPTBN1 (R412C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365057	NM_003128.3(SPTBN1):c.1294G>A (p.Ala432Thr)	SPTBN1 (A419T +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 3367492	NM_003128.3(SPTBN1):c.1400T>C (p.Ile467Thr)	SPTBN1 (I454T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3388712	NM_003128.3(SPTBN1):c.1422C>T (p.Tyr474=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3363531	NM_003128.3(SPTBN1):c.1436A>T (p.Gln479Leu)	SPTBN1 (Q466L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357797	NM_003128.3(SPTBN1):c.1464C>T (p.Leu488=)	SPTBN1	Single nucleotide variant (synonymous variant)	SPTBN1-related disorder	GLikely benign
Select item 716683	NM_003128.3(SPTBN1):c.1470C>T (p.Ala490=)	SPTBN1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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