C3553247[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439165	NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)	ARID1A (P68L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2688597	NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)	ARID1A (S90R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2688598	NM_006015.6(ARID1A):c.320C>T (p.Ala107Val)	ARID1A (A107V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439162	NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)	ARID1A (A112T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2688596	NM_006015.6(ARID1A):c.493G>C (p.Ala165Pro)	ARID1A (A165P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439164	NM_006015.6(ARID1A):c.626A>T (p.Asn209Ile)	ARID1A, LOC129929837 (N209I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1323396	NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter)	ARID1A (S617*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 1323404	NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter)	ARID1A (Q708*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 1321507	NM_006015.6(ARID1A):c.2615T>C (p.Met872Thr)	ARID1A (M872T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439161	NM_006015.6(ARID1A):c.2988+3A>T	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439160	NM_006015.6(ARID1A):c.3978GCA[4] (p.Gln1331_Gln1334del)	ARID1A	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439166	NM_006015.6(ARID1A):c.4412A>G (p.Asn1471Ser)	ARID1A (N1471S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1313887	NM_006015.6(ARID1A):c.4715A>G (p.Tyr1572Cys)	ARID1A (Y1572C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2688599	NM_006015.6(ARID1A):c.4874T>C (p.Ile1625Thr)	ARID1A (I1408T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439163	NM_006015.6(ARID1A):c.5939G>A (p.Arg1980His)	ARID1A (R1763H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2690474	NM_006015.6(ARID1A):c.6612C>T (p.Ala2204=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign