KMO[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115953	NM_003679.5(KMO):c.14T>C (p.Val5Ala)	KMO (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349595	NM_003679.5(KMO):c.40A>G (p.Ile14Val)	KMO (I14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115951	NM_003679.5(KMO):c.119G>C (p.Arg40Thr)	KMO (R40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307311	NM_003679.5(KMO):c.445C>G (p.Leu149Val)	KMO (L149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289113	NM_003679.5(KMO):c.490G>T (p.Val164Leu)	KMO (V164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497696	NM_003679.5(KMO):c.583_601del (p.Met195fs)	KMO (M195fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 721466	NM_003679.5(KMO):c.598C>T (p.Pro200Ser)	KMO (P200S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3115955	NM_003679.5(KMO):c.616T>C (p.Tyr206His)	KMO (Y206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115956	NM_003679.5(KMO):c.635A>G (p.Tyr212Cys)	KMO (Y212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033753	NM_003679.5(KMO):c.701C>T (p.Thr234Ile)	KMO (T234I)	Single nucleotide variant (missense variant)	KMO-related disorder	GLikely benign
Select item 3115957	NM_003679.5(KMO):c.712T>C (p.Phe238Leu)	KMO (F238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289115	NM_003679.5(KMO):c.760G>A (p.Val254Ile)	KMO (V254I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 744425	NM_003679.5(KMO):c.785C>T (p.Pro262Leu)	KMO (P262L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771693	NM_003679.5(KMO):c.786G>A (p.Pro262=)	KMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2616699	NM_003679.5(KMO):c.862G>A (p.Val288Ile)	KMO (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115958	NM_003679.5(KMO):c.898G>C (p.Val300Leu)	KMO (V300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388387	NM_003679.5(KMO):c.932C>T (p.Pro311Leu)	KMO (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773477	NM_003679.5(KMO):c.957+9T>A	KMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3289114	NM_003679.5(KMO):c.1078T>C (p.Ser360Pro)	KMO (S360P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115950	NM_003679.5(KMO):c.1094T>C (p.Ile365Thr)	KMO (I365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255337	NM_003679.5(KMO):c.1211C>G (p.Ser404Cys)	KMO (S391C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223656	NM_003679.5(KMO):c.1238A>G (p.Gln413Arg)	KMO (Q413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115952	NM_003679.5(KMO):c.1271A>G (p.Lys424Arg)	KMO (K424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607441	NM_003679.5(KMO):c.1321C>T (p.Leu441Phe)	KMO (L428F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273365	NM_003679.5(KMO):c.1331A>G (p.Tyr444Cys)	KMO (Y431C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468990	NM_003679.5(KMO):c.1390C>T (p.Arg464Trp)	KMO (R451W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 26