"PreventionGenetics, part of Exact Sciences"[submitter] AND "JARID2"[g - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635867	NM_004973.4(JARID2):c.53G>A (p.Ser18Asn)	JARID2 (S18N)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related disorder	GUncertain significance
Select item 3049562	NM_004973.4(JARID2):c.390A>G (p.Val130=)	JARID2	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related disorder	GBenign
Select item 2631267	NM_004973.4(JARID2):c.393G>C (p.Lys131Asn)	JARID2 (K131N)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related disorder	GUncertain significance
Select item 3029868	NM_004973.4(JARID2):c.445A>C (p.Lys149Gln)	JARID2 (K149Q)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related disorder	GUncertain significance
Select item 2631027	NM_004973.4(JARID2):c.488T>C (p.Leu163Pro)	JARID2 (L163P)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related disorder	GUncertain significance
Select item 1302851	NM_004973.4(JARID2):c.597C>G (p.Thr199=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder +1 more	GBenign
Select item 3056803	NM_004973.4(JARID2):c.744C>T (p.Pro248=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 2230536	NM_004973.4(JARID2):c.1148A>G (p.Asn383Ser)	JARID2 (N383S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3031410	NM_004973.4(JARID2):c.1182G>T (p.Gly394=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 3040938	NM_004973.4(JARID2):c.1214A>G (p.Asn405Ser)	JARID2 (N233S +1 more)	Single nucleotide variant (missense variant)	JARID2-related disorder	GLikely benign
Select item 3052069	NM_004973.4(JARID2):c.1290_1307del (p.426QLREGL[1])	JARID2	Deletion (inframe deletion)	JARID2-related disorder	GLikely benign
Select item 3045195	NM_004973.4(JARID2):c.1320C>G (p.Ser440=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 2656245	NM_004973.4(JARID2):c.1459A>G (p.Lys487Glu)	JARID2 (K315E +1 more)	Single nucleotide variant (missense variant)	JARID2-related disorder +1 more	GBenign/Likely benign
Select item 3041087	NM_004973.4(JARID2):c.1674C>T (p.Pro558=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 3035135	NM_004973.4(JARID2):c.1899G>A (p.Lys633=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 3040941	NM_004973.4(JARID2):c.1946-10G>A	JARID2	Single nucleotide variant (intron variant)	JARID2-related disorder	GLikely benign
Select item 3045138	NM_004973.4(JARID2):c.2118C>T (p.Leu706=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 3033214	NM_004973.4(JARID2):c.2257C>T (p.Arg753Cys)	JARID2 (R581C +1 more)	Single nucleotide variant (missense variant)	JARID2-related disorder	GLikely benign
Select item 2631591	NM_004973.4(JARID2):c.2323A>G (p.Lys775Glu)	JARID2 (K603E +1 more)	Single nucleotide variant (missense variant)	JARID2-related disorder	GUncertain significance
Select item 3049717	NM_004973.4(JARID2):c.2496C>T (p.Ile832=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 3053686	NM_004973.4(JARID2):c.2658G>A (p.Ser886=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 2632203	NM_004973.4(JARID2):c.3128C>G (p.Thr1043Ser)	JARID2 (T1043S +1 more)	Single nucleotide variant (missense variant)	JARID2-related disorder	GUncertain significance
Select item 3050251	NM_004973.4(JARID2):c.3129C>T (p.Thr1043=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign
Select item 738469	NM_004973.4(JARID2):c.3558+7C>T	JARID2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3041962	NM_004973.4(JARID2):c.3681C>T (p.Asp1227=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related disorder	GLikely benign

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Items: 25