"GeneDx"[submitter] AND "IMPDH2"[gene] - ClinVar

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Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364704	NM_000884.3(IMPDH2):c.1523+6T>C	IMPDH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2505613	NM_000884.3(IMPDH2):c.1471G>C (p.Glu491Gln)	IMPDH2 (E466Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343489	NM_000884.3(IMPDH2):c.1305C>G (p.Asp435Glu)	IMPDH2 (D410E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504438	NM_000884.3(IMPDH2):c.1142C>T (p.Ala381Val)	IMPDH2 (A356V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446351	NM_000884.3(IMPDH2):c.1044C>A (p.Tyr348Ter)	IMPDH2 (Y323* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3375782	NM_000884.3(IMPDH2):c.854_856inv (p.Asn285_Met286delinsIleLeu)	IMPDH2	Inversion (missense variant)	not provided	GUncertain significance
Select item 1229935	NM_000884.3(IMPDH2):c.819+10T>C	IMPDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329842	NM_000884.3(IMPDH2):c.715G>C (p.Asp239His)	IMPDH2 (D239H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252434	NM_000884.3(IMPDH2):c.637_639del (p.Asn213del)	IMPDH2 (N188del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1305966	NM_000884.3(IMPDH2):c.619G>C (p.Gly207Arg)	IMPDH2 (G207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370887	NM_000884.3(IMPDH2):c.611G>C (p.Ser204Thr)	IMPDH2 (S179T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253030	NM_000884.3(IMPDH2):c.593A>G (p.Asn198Ser)	IMPDH2 (N173S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363624	NM_000884.3(IMPDH2):c.550G>A (p.Asp184Asn)	IMPDH2 (D159N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369709	NM_000884.3(IMPDH2):c.476C>T (p.Ser159Phe)	IMPDH2 (S134F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370818	NM_000884.3(IMPDH2):c.286A>C (p.Thr96Pro)	IMPDH2 (T96P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372812	NM_000884.3(IMPDH2):c.257G>A (p.Gly86Asp)	IMPDH2 (G86D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581885	NM_000884.3(IMPDH2):c.242C>A (p.Ala81Glu)	IMPDH2 (A81E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369372	NM_000884.3(IMPDH2):c.71dup (p.Asn25fs)	IMPDH2 (N25fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 3361561	NM_000884.3(IMPDH2):c.661A>T (p.Ile221Phe)	IMPDH2 (I196F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360360	NM_000884.3(IMPDH2):c.890T>A (p.Leu297His)	IMPDH2 (L272H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 21