"GeneDx"[submitter] AND "LOC129929837"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803512	NM_006015.6(ARID1A):c.630C>G (p.His210Gln)	ARID1A, LOC129929837 (H210Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723757	NM_006015.6(ARID1A):c.649C>G (p.Pro217Ala)	ARID1A, LOC129929837 (P217A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377497	NM_006015.6(ARID1A):c.670C>G (p.Pro224Ala)	ARID1A, LOC129929837 (P224A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3364930	NM_006015.6(ARID1A):c.674C>A (p.Pro225His)	ARID1A, LOC129929837 (P225H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578137	NM_006015.6(ARID1A):c.698C>T (p.Ser233Phe)	ARID1A, LOC129929837 (S233F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573802	NM_006015.6(ARID1A):c.704G>A (p.Arg235Lys)	ARID1A, LOC129929837 (R235K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210263	NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)	ARID1A, LOC129929837	Microsatellite (inframe_insertion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2442668	NM_006015.6(ARID1A):c.741C>G (p.Ala247=)	LOC129929837, ARID1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2580422	NM_006015.6(ARID1A):c.815G>A (p.Gly272Glu)	ARID1A, LOC129929837 (G272E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663489	NM_006015.6(ARID1A):c.819C>T (p.Ala273=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256709	NM_006015.6(ARID1A):c.837C>T (p.Pro279=)	LOC129929837, ARID1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1212594	NM_006015.6(ARID1A):c.865C>T (p.Pro289Ser)	ARID1A, LOC129929837 (P289S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1195536	NM_006015.6(ARID1A):c.927G>A (p.Gln309=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1310869	NM_006015.6(ARID1A):c.935C>G (p.Pro312Arg)	ARID1A, LOC129929837 (P312R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1704018	NM_006015.6(ARID1A):c.945C>T (p.Asp315=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 434336	NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)	ARID1A, LOC129929837	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1706127	NM_006015.6(ARID1A):c.1026_1043dup (p.Ala349_Ser350insAlaAlaAlaAlaAlaAla)	ARID1A, LOC129929837	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2412875	NM_006015.6(ARID1A):c.1124C>A (p.Ala375Asp)	ARID1A, LOC129929837 (A375D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716185	NM_006015.6(ARID1A):c.1131C>T (p.Thr377=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 20