"ARID2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631787	NM_152641.4(ARID2):c.22G>T (p.Ala8Ser)	ARID2 (A8S)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 133558	NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser)	ARID2 (T491S)	Single nucleotide variant (missense variant)	ARID2-related disorder +3 more	GBenign/Likely benign
Select item 2633694	NM_152641.4(ARID2):c.1486G>C (p.Ala496Pro)	ARID2 (A496P)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 712973	NM_152641.4(ARID2):c.1518G>A (p.Ala506=)	ARID2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3036824	NM_152641.4(ARID2):c.1521G>A (p.Gln507=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely benign
Select item 2633146	NM_152641.4(ARID2):c.1571C>T (p.Ala524Val)	ARID2 (A524V)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 2630480	NM_152641.4(ARID2):c.1605del (p.Pro536fs)	ARID2 (P536fs)	Deletion (frameshift variant)	ARID2-related disorder	GLikely pathogenic
Select item 2630566	NM_152641.4(ARID2):c.2017G>A (p.Gly673Ser)	ARID2 (G673S)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 133566	NM_152641.4(ARID2):c.2428G>C (p.Ala810Pro)	ARID2 (A810P)	Single nucleotide variant (missense variant)	ARID2-related disorder +1 more	GBenign/Likely benign
Select item 784298	NM_152641.4(ARID2):c.2466C>T (p.Ile822=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder +1 more	GBenign/Likely benign
Select item 2628695	NM_152641.4(ARID2):c.2638A>G (p.Ile880Val)	ARID2 (I880V)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 133562	NM_152641.4(ARID2):c.2764A>G (p.Thr922Ala)	ARID2 (T922A)	Single nucleotide variant (missense variant)	ARID2-related disorder +1 more	GBenign
Select item 1268505	NM_152641.4(ARID2):c.3171G>A (p.Ser1057=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder +1 more	GBenign
Select item 3054493	NM_152641.4(ARID2):c.3244C>G (p.Pro1082Ala)	ARID2 (P1082A)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 3045223	NM_152641.4(ARID2):c.3339G>A (p.Gly1113=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely benign
Select item 3031070	NM_152641.4(ARID2):c.3714A>G (p.Lys1238=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely benign
Select item 1690883	NM_152641.4(ARID2):c.4241G>T (p.Arg1414Ile)	ARID2 (R1414I)	Single nucleotide variant (missense variant)	See cases +2 more	GLikely benign
Select item 133568	NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser)	ARID2 (A1434S)	Single nucleotide variant (missense variant)	ARID2-related disorder +2 more	GBenign
Select item 740410	NM_152641.4(ARID2):c.4349G>A (p.Gly1450Glu)	ARID2 (G1450E)	Single nucleotide variant (missense variant)	ARID2-related disorder +1 more	GBenign
Select item 133570	NM_152641.4(ARID2):c.4492G>A (p.Ala1498Thr)	ARID2 (A1498T)	Single nucleotide variant (missense variant)	ARID2-related disorder +1 more	GBenign/Likely benign
Select item 3031837	NM_152641.4(ARID2):c.4496T>G (p.Leu1499Arg)	ARID2 (L1499R)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 133565	NM_152641.4(ARID2):c.4510C>T (p.Arg1504Trp)	ARID2 (R1504W)	Single nucleotide variant (missense variant)	ARID2-related disorder +1 more	GLikely benign
Select item 2379923	NM_152641.4(ARID2):c.4511G>A (p.Arg1504Gln)	ARID2 (R1504Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3024467	NM_152641.4(ARID2):c.4585G>A (p.Gly1529Arg)	ARID2 (G1529R)	Single nucleotide variant (missense variant)	ARID2-related disorder	GLikely benign
Select item 133571	NM_152641.4(ARID2):c.4705G>A (p.Ala1569Thr)	ARID2 (A1569T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3036083	NM_152641.4(ARID2):c.4818G>A (p.Gln1606=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely benign

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Items: 26