"Dudley Research Group, Pacific Northwest Research Institute"[submitte - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976916	NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn)	PSAT1 (D2N)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 912614	NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr)	PSAT1 (D2Y)	Single nucleotide variant (missense variant)	PSAT deficiency +1 more	GUncertain significance
Select item 976926	NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser)	PSAT1 (A3S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976925	NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr)	PSAT1 (A3T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 367451	NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)	PSAT1 (A15P)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +1 more	GUncertain significance
Select item 450380	NM_058179.4(PSAT1):c.44C>T (p.Ala15Val)	PSAT1 (A15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 367453	NM_058179.4(PSAT1):c.55C>G (p.His19Asp)	PSAT1 (H19D)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +1 more	GUncertain significance
Select item 976928	NM_058179.4(PSAT1):c.62T>G (p.Val21Gly)	PSAT1 (V21G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976927	NM_058179.4(PSAT1):c.62T>A (p.Val21Glu)	PSAT1 (V21E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976970	NM_058179.4(PSAT1):c.65T>G (p.Leu22Trp)	PSAT1 (L22W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976971	NM_058179.4(PSAT1):c.73A>G (p.Ile25Val)	PSAT1 (I25V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976972	NM_058179.4(PSAT1):c.91G>A (p.Asp31Asn)	PSAT1 (D31N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976973	NM_058179.4(PSAT1):c.94T>C (p.Tyr32His)	PSAT1 (Y32H)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976974	NM_058179.4(PSAT1):c.97A>G (p.Lys33Glu)	PSAT1 (K33E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976975	NM_058179.4(PSAT1):c.98A>G (p.Lys33Arg)	PSAT1 (K33R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 912616	NM_058179.4(PSAT1):c.104T>A (p.Val35Asp)	PSAT1 (V35D)	Single nucleotide variant (missense variant)	PSAT deficiency	GUncertain significance
Select item 976976	NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg)	PSAT1 (G36R)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1081	NM_058179.4(PSAT1):c.107del (p.Gly36fs)	PSAT1 (G36fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 977018	NM_058179.4(PSAT1):c.109A>G (p.Ile37Val)	PSAT1 (I37V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977019	NM_058179.4(PSAT1):c.124A>G (p.Met42Val)	PSAT1 (M42V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977020	NM_058179.4(PSAT1):c.127A>C (p.Ser43Arg)	PSAT1 (S43R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977022	NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg)	PSAT1 (S43R)	Single nucleotide variant (missense variant)	PSAT deficiency	GPathogenic
Select item 977021	NM_058179.4(PSAT1):c.129T>A (p.Ser43Arg)	PSAT1 (S43R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977024	NM_058179.4(PSAT1):c.132C>G (p.His44Gln)	PSAT1 (H44Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977023	NM_058179.4(PSAT1):c.132C>A (p.His44Gln)	PSAT1 (H44Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977025	NM_058179.4(PSAT1):c.135G>C (p.Arg45Ser)	PSAT1 (R45S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976917	NM_058179.4(PSAT1):c.135G>T (p.Arg45Ser)	PSAT1 (R45S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976918	NM_058179.4(PSAT1):c.136T>C (p.Ser46Pro)	PSAT1 (S46P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976919	NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn)	PSAT1 (D48N)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976920	NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln)	PSAT1 (K51Q)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976922	NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn)	PSAT1 (K51N)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976921	NM_058179.4(PSAT1):c.153G>C (p.Lys51Asn)	PSAT1 (K51N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976923	NM_058179.4(PSAT1):c.161A>T (p.Asn54Ile)	PSAT1 (N54I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976924	NM_058179.4(PSAT1):c.163A>G (p.Asn55Asp)	PSAT1 (N55D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976929	NM_058179.4(PSAT1):c.164A>G (p.Asn55Ser)	PSAT1 (N55S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976930	NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala)	PSAT1 (T56A)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976931	NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly)	PSAT1 (E57G)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976932	NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser)	PSAT1 (N58S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976933	NM_058179.4(PSAT1):c.179T>C (p.Val60Ala)	PSAT1 (V60A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 849232	NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)	PSAT1 (R61W)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +1 more	GUncertain significance
Select item 976935	NM_058179.4(PSAT1):c.182G>T (p.Arg61Leu)	PSAT1 (R61L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976934	NM_058179.4(PSAT1):c.182G>A (p.Arg61Gln)	PSAT1 (R61Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976977	NM_058179.4(PSAT1):c.200C>T (p.Pro67Leu)	PSAT1 (P67L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976978	NM_058179.4(PSAT1):c.203A>G (p.Asp68Gly)	PSAT1 (D68G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976980	NM_058179.4(PSAT1):c.209A>G (p.Tyr70Cys)	PSAT1 (Y70C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976979	NM_058179.4(PSAT1):c.209A>C (p.Tyr70Ser)	PSAT1 (Y70S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976982	NM_058179.4(PSAT1):c.213G>T (p.Lys71Asn)	PSAT1 (K71N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976981	NM_058179.4(PSAT1):c.213G>C (p.Lys71Asn)	PSAT1 (K71N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976983	NM_058179.4(PSAT1):c.233G>C (p.Gly78Ala)	PSAT1 (G78A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976984	NM_058179.4(PSAT1):c.239G>A (p.Cys80Tyr)	PSAT1 (C80Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977026	NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser)	PSAT1 (G81S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 977027	NM_058179.4(PSAT1):c.251G>A (p.Ser84Asn)	PSAT1 (S84N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977028	NM_058179.4(PSAT1):c.259C>T (p.Pro87Ser)	PSAT1 (P87S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977029	NM_058179.4(PSAT1):c.260C>T (p.Pro87Leu)	PSAT1 (P87L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977030	NM_058179.4(PSAT1):c.272T>C (p.Ile91Thr)	PSAT1 (I91T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977031	NM_058179.4(PSAT1):c.278T>C (p.Leu93Ser)	PSAT1 (L93S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977032	NM_058179.4(PSAT1):c.284C>A (p.Ala95Glu)	PSAT1 (A95E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977033	NM_058179.4(PSAT1):c.290G>A (p.Arg97Lys)	PSAT1 (R97K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976877	NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr)	PSAT1 (C98Y)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 156364	NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)	PSAT1 (A99V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1082	NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala)	PSAT1 (D100A)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 976878	NM_058179.4(PSAT1):c.304G>A (p.Val102Met)	PSAT1 (V102M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976881	NM_058179.4(PSAT1):c.307G>T (p.Val103Leu)	PSAT1 (V103L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976880	NM_058179.4(PSAT1):c.307G>C (p.Val103Leu)	PSAT1 (V103L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976879	NM_058179.4(PSAT1):c.307G>A (p.Val103Met)	PSAT1 (V103M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976882	NM_058179.4(PSAT1):c.311C>T (p.Thr104Ile)	PSAT1 (T104I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976937	NM_058179.4(PSAT1):c.316G>T (p.Ala106Ser)	PSAT1 (A106S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976936	NM_058179.4(PSAT1):c.316G>A (p.Ala106Thr)	PSAT1 (A106T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976938	NM_058179.4(PSAT1):c.322T>C (p.Ser108Pro)	PSAT1 (S108P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976939	NM_058179.4(PSAT1):c.326C>T (p.Ala109Val)	PSAT1 (A109V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 623438	NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln)	PSAT1 (K110Q)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976940	NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser)	PSAT1 (A112S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 936099	NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)	PSAT1 (A112T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 913717	NM_058179.4(PSAT1):c.335C>T (p.Ala112Val)	PSAT1 (A112V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +1 more	GUncertain significance
Select item 976985	NM_058179.4(PSAT1):c.338A>T (p.Glu113Val)	PSAT1 (E113V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976986	NM_058179.4(PSAT1):c.341A>C (p.Glu114Ala)	PSAT1 (E114A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976988	NM_058179.4(PSAT1):c.348G>T (p.Lys116Asn)	PSAT1 (K116N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976987	NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn)	PSAT1 (K116N)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 367455	NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)	PSAT1 (I123V)	Single nucleotide variant (missense variant)	PSAT1-related condition +2 more	GLikely benign
Select item 976989	NM_058179.4(PSAT1):c.368T>C (p.Ile123Thr)	PSAT1 (I123T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 914104	NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)	PSAT1 (V124I)	Single nucleotide variant (missense variant)	PSAT deficiency +1 more	GUncertain significance
Select item 976990	NM_058179.4(PSAT1):c.373C>T (p.His125Tyr)	PSAT1 (H125Y)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 977034	NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser)	PSAT1 (P126S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 977035	NM_058179.4(PSAT1):c.382C>T (p.Leu128Phe)	PSAT1 (L128F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977036	NM_058179.4(PSAT1):c.385G>T (p.Gly129Trp)	PSAT1 (G129W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977037	NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu)	PSAT1 (G129E)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 569328	NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg)	PSAT1 (T132R)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 977038	NM_058179.4(PSAT1):c.404C>T (p.Pro135Leu)	PSAT1 (P135L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977040	NM_058179.4(PSAT1):c.429C>G (p.Asn143Lys)	PSAT1 (N143K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977039	NM_058179.4(PSAT1):c.429C>A (p.Asn143Lys)	PSAT1 (N143K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 450376	NM_058179.4(PSAT1):c.432del (p.Asp145fs)	PSAT1 (D145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 976884	NM_058179.4(PSAT1):c.439T>G (p.Ser147Ala)	PSAT1 (S147A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976883	NM_058179.4(PSAT1):c.439T>A (p.Ser147Thr)	PSAT1 (S147T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976885	NM_058179.4(PSAT1):c.440C>A (p.Ser147Tyr)	PSAT1 (S147Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 914106	NM_058179.4(PSAT1):c.445G>A (p.Val149Met)	PSAT1 (V149M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 976886	NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys)	PSAT1 (Y150C)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976887	NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys)	PSAT1 (Y151C)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976889	NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser)	PSAT1 (A153S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976888	NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr)	PSAT1 (A153T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976941	NM_058179.4(PSAT1):c.467C>T (p.Thr156Met)	PSAT1 (T156M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance

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