TAL1[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 3173662	NM_001290403.2(TAL1):c.929C>T (p.Pro310Leu)	TAL1 (P310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343602	NM_001290403.2(TAL1):c.925G>T (p.Ala309Ser)	TAL1 (A309S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620399	NM_001290403.2(TAL1):c.849C>G (p.Asp283Glu)	TAL1 (D124E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056122	NM_001290403.2(TAL1):c.819C>T (p.Gly273=)	TAL1	Single nucleotide variant (synonymous variant)	TAL1-related disorder	GBenign
Select item 3050360	NM_001290403.2(TAL1):c.813A>C (p.Gly271=)	TAL1	Single nucleotide variant (synonymous variant)	TAL1-related disorder	GLikely benign
Select item 2374689	NM_001290403.2(TAL1):c.805G>A (p.Gly269Ser)	TAL1 (G110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173661	NM_001290403.2(TAL1):c.800G>A (p.Gly267Asp)	TAL1 (G267D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326434	NM_001290403.2(TAL1):c.799G>A (p.Gly267Ser)	TAL1 (G267S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033534	NM_001290403.2(TAL1):c.795T>G (p.Gly265=)	TAL1	Single nucleotide variant (synonymous variant)	TAL1-related disorder	GBenign
Select item 3034085	NM_001290403.2(TAL1):c.792T>G (p.Ala264=)	TAL1	Single nucleotide variant (synonymous variant)	TAL1-related disorder	GLikely benign
Select item 3173660	NM_001290403.2(TAL1):c.533T>C (p.Ile178Thr)	TAL1 (I178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754520	NM_001290403.2(TAL1):c.519C>T (p.Pro173=)	TAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373337	NM_001290403.2(TAL1):c.488C>T (p.Thr163Ile)	TAL1 (T163I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045332	NM_001290403.2(TAL1):c.486C>G (p.Thr162=)	TAL1	Single nucleotide variant (synonymous variant)	TAL1-related disorder	GLikely benign
Select item 1246151	NM_001290403.2(TAL1):c.447-72G>C	TAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286924	NM_001290403.2(TAL1):c.446+123G>C	TAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786986	NM_001290403.2(TAL1):c.441C>G (p.Leu147=)	TAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2457179	NM_001290403.2(TAL1):c.395C>G (p.Pro132Arg)	TAL1 (P132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363302	NM_001290403.2(TAL1):c.392C>T (p.Ala131Val)	TAL1 (A131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397194	NM_001290403.2(TAL1):c.383C>A (p.Ala128Asp)	TAL1 (A128D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542637	NM_001290403.2(TAL1):c.340G>A (p.Gly114Ser)	TAL1 (G114S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038868	NM_001290403.2(TAL1):c.311C>T (p.Ala104Val)	TAL1 (A104V)	Single nucleotide variant (missense variant +1 more)	TAL1-related disorder	GLikely benign
Select item 3039271	NM_001290403.2(TAL1):c.310G>T (p.Ala104Ser)	TAL1 (A104S)	Single nucleotide variant (missense variant +1 more)	TAL1-related disorder	GLikely benign
Select item 2350465	NM_001290403.2(TAL1):c.262G>A (p.Val88Met)	TAL1 (V88M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274912	NM_001290403.2(TAL1):c.212C>T (p.Ala71Val)	TAL1 (A71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483255	NM_001290403.2(TAL1):c.211G>C (p.Ala71Pro)	TAL1 (A71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038998	NM_001290403.2(TAL1):c.184G>C (p.Gly62Arg)	TAL1 (G62R)	Single nucleotide variant (missense variant +1 more)	TAL1-related disorder	GLikely benign
Select item 2309580	NM_001290403.2(TAL1):c.166G>T (p.Ala56Ser)	TAL1 (A56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282966	NM_001290403.2(TAL1):c.88C>G (p.His30Asp)	TAL1 (H30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050612	NM_001290403.2(TAL1):c.80C>G (p.Ala27Gly)	TAL1 (A27G)	Single nucleotide variant (missense variant +1 more)	TAL1-related disorder	GLikely benign
Select item 2376152	NM_001290403.2(TAL1):c.64G>A (p.Ala22Thr)	TAL1 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351034	NM_001290403.2(TAL1):c.31C>T (p.Arg11Cys)	TAL1 (R11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1262406	NM_001290403.2(TAL1):c.-1-19TCTG[2]	TAL1	Microsatellite (intron variant)	not provided	GBenign
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 41