C3553247[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126309	NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup)	ARID1A	Microsatellite (inframe_insertion)	Intellectual disability, autosomal dominant 14 +2 more	GBenign/Likely benign
Select item 434311	NM_006015.6(ARID1A):c.135C>T (p.Ala45=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1250824	NM_006015.6(ARID1A):c.162C>T (p.Ala54=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 434314	NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)	ARID1A (S90G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 434315	NM_006015.6(ARID1A):c.318C>T (p.Asn106=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1272255	NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser)	ARID1A (G125S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1241257	NM_006015.6(ARID1A):c.393G>C (p.Gly131=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 376870	NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser)	ARID1A (P158S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 975333	NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu)	ARID1A (P194L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1175604	NM_006015.6(ARID1A):c.759C>G (p.Pro253=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign/Likely benign
Select item 716185	NM_006015.6(ARID1A):c.1131C>T (p.Thr377=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 713769	NM_006015.6(ARID1A):c.1188C>T (p.Gly396=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1232241	NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1693173	NM_006015.6(ARID1A):c.1351-82C>T	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GBenign
Select item 1272243	NM_006015.6(ARID1A):c.1351-22A>C	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1286796	NM_006015.6(ARID1A):c.1716G>A (p.Thr572=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 133556	NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)	ARID1A (Q708P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +2 more	GBenign/Likely benign
Select item 434320	NM_006015.6(ARID1A):c.2139A>G (p.Pro713=)	ARID1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1230604	NM_006015.6(ARID1A):c.2252-97A>T	ARID1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265520	NM_006015.6(ARID1A):c.2420-18G>C	ARID1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 434321	NM_006015.6(ARID1A):c.2541C>A (p.Ile847=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +2 more	GBenign/Likely benign
Select item 1244408	NM_006015.6(ARID1A):c.2988+36G>A	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1297870	NM_006015.6(ARID1A):c.3199-95A>G	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1206070	NM_006015.6(ARID1A):c.3716-7C>T	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 434323	NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +2 more	GBenign/Likely benign
Select item 771687	NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1274566	NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 235338	NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup)	ARID1A	Microsatellite (inframe_insertion)	Intellectual disability, autosomal dominant 14 +1 more	GBenign/Likely benign
Select item 806099	NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=)	ARID1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1274554	NM_006015.6(ARID1A):c.4152C>T (p.His1384=)	ARID1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1248815	NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg)	ARID1A (Q1584R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14 +1 more	GBenign/Likely benign
Select item 1229299	NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1256938	NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1257586	NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala)	ARID1A (P1410A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1237705	NM_006015.6(ARID1A):c.4994-20G>C	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 126310	NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +2 more	GBenign
Select item 434326	NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=)	ARID1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 126311	NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser)	ARID1A (N1705S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1228712	NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del)	ARID1A (E1550del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 446064	NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser)	ARID1A (P1771S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign/Likely benign
Select item 133551	NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)	ARID1A (E1779G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 133552	NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)	ARID1A (R1906Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 210262	NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 788352	NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser)	ARID1A (N2220S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1193038	NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr)	ARID1A (A2020T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign/Likely benign
Select item 259583	NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)	ACTN4 (R310Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign

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Items: 46