"Ambry Genetics"[submitter] AND "IMPDH1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2515138	NM_000883.4(IMPDH1):c.1790G>A (p.Arg597Gln)	IMPDH1 (R561Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2604777	NM_000883.4(IMPDH1):c.1783G>A (p.Glu595Lys)	IMPDH1 (E485K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194611	NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)	IMPDH1 (E572Q +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 3109566	NM_000883.4(IMPDH1):c.1676G>A (p.Arg559His)	IMPDH1 (R449H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 811869	NM_000883.4(IMPDH1):c.1654G>A (p.Gly552Ser)	IMPDH1 (G442S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 858853	NM_000883.4(IMPDH1):c.1574C>T (p.Ala525Val)	IMPDH1 (A456V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 289610	NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 943417	NM_000883.4(IMPDH1):c.1475G>A (p.Arg492Gln)	IMPDH1 (R382Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160581	NM_000883.4(IMPDH1):c.1363G>A (p.Val455Met)	IMPDH1 (V386M +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 767118	NM_000883.4(IMPDH1):c.1362C>T (p.Thr454=)	IMPDH1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2277589	NM_000883.4(IMPDH1):c.1249A>G (p.Ile417Val)	IMPDH1 (I327V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1356175	NM_000883.4(IMPDH1):c.1228A>G (p.Met410Val)	IMPDH1 (M300V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1519248	NM_000883.4(IMPDH1):c.1157G>T (p.Gly386Val)	IMPDH1 (G317V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3109565	NM_000883.4(IMPDH1):c.1009A>T (p.Thr337Ser)	IMPDH1 (T227S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1513705	NM_000883.4(IMPDH1):c.952T>C (p.Tyr318His)	IMPDH1 (Y282H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335988	NM_000883.4(IMPDH1):c.925C>T (p.Arg309Cys)	IMPDH1 (R199C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2308095	NM_000883.4(IMPDH1):c.892A>G (p.Asn298Asp)	IMPDH1 (N208D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389387	NM_000883.4(IMPDH1):c.800G>A (p.Arg267Lys)	IMPDH1 (R177K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 358878	NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)	IMPDH1 (T257A +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 426445	NM_000883.4(IMPDH1):c.754G>T (p.Ala252Ser)	IMPDH1 (A252S +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2557257	NM_000883.4(IMPDH1):c.707G>A (p.Gly236Asp)	IMPDH1 (G226D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 866122	NM_000883.4(IMPDH1):c.634G>A (p.Val212Met)	IMPDH1 (V122M +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 444730	NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)	IMPDH1 (F126S +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2232455	NM_000883.4(IMPDH1):c.250G>C (p.Ala84Pro)	IMPDH1 (A74P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 24