C3553247[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679117	NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)	ARID1A (E33fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GConflicting classifications of pathogenicity
Select item 1031595	NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg)	ARID1A (P66R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028991	NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys)	ARID1A (E97K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028993	NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg)	ARID1A (P109R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 560946	NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter)	ARID1A (Q450*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14 +1 more	GPathogenic
Select item 1031594	NM_006015.6(ARID1A):c.1430A>G (p.His477Arg)	ARID1A (H477R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GConflicting classifications of pathogenicity
Select item 1028989	NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu)	ARID1A (S571L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 434339	NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys)	ARID1A (R774C)	Single nucleotide variant (missense variant)	ARID1A-related BAFopathy +2 more	GConflicting classifications of pathogenicity
Select item 1031596	NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg)	ARID1A (G794R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1031597	NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu)	ARID1A (P877L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +2 more	GUncertain significance
Select item 1028990	NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser)	ARID1A (N919S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028992	NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys)	ARID1A (E1017K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2442202	NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)	ARID1A (W1023G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 689740	NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)	ARID1A (D1050Y)	Single nucleotide variant (missense variant)	ARID1A-related BAFopathy +1 more	GLikely pathogenic
Select item 1028994	NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe)	ARID1A (L1092F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028995	NM_006015.6(ARID1A):c.3539+5G>A	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1031598	NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr)	ARID1A (P1372T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14 +1 more	GUncertain significance
Select item 1031599	NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu)	ARID1A (S1544L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028996	NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys)	ARID1A (R1381C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028997	NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)	ARID1A (I1771T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 560947	NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)	ARID1A (K1828fs +1 more)	Deletion (frameshift variant)	ARID1A-related BAFopathy +1 more	GPathogenic
Select item 2582556	NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)	ARID1A (I1850T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic

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Items: 22