"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PSAT1"[ - 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)	Neu-Laxova syndrome 2 +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 1670491	NM_058179.4(PSAT1):c.9C>T (p.Ala3=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1620049	NM_058179.4(PSAT1):c.33G>T (p.Gly11=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2114505	NM_058179.4(PSAT1):c.37G>A (p.Gly13Ser)	PSAT1 (G13S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 2140707	NM_058179.4(PSAT1):c.43_60+9del	PSAT1	Deletion (splice donor variant)	Neu-Laxova syndrome 2	GLikely pathogenic
Select item 1414482	NM_058179.4(PSAT1):c.43G>A (p.Ala15Thr)	PSAT1 (A15T)	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)	PSAT deficiency +1 more	GUncertain significance
Select item 1990642	NM_058179.4(PSAT1):c.49C>T (p.Leu17=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2792468	NM_058179.4(PSAT1):c.54G>T (p.Pro18=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 367452	NM_058179.4(PSAT1):c.54G>A (p.Pro18=)	PSAT1	Single nucleotide variant (synonymous variant)	PSAT deficiency +1 more	GConflicting classifications of pathogenicity
Select item 367453	NM_058179.4(PSAT1):c.55C>G (p.His19Asp)	PSAT1 (H19D)	Single nucleotide variant (missense variant)	PSAT deficiency +1 more	GUncertain significance
Select item 1552094	NM_058179.4(PSAT1):c.60+8C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1643633	NM_058179.4(PSAT1):c.60+9C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2037094	NM_058179.4(PSAT1):c.60+10C>T	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1596708	NM_058179.4(PSAT1):c.60+20C>A	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1467408	NM_058179.4(PSAT1):c.60+20C>T	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1669519	NM_058179.4(PSAT1):c.61-17C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2986158	NM_058179.4(PSAT1):c.76C>T (p.Gln26Ter)	PSAT1 (Q26*)	Single nucleotide variant (nonsense)	Neu-Laxova syndrome 2	GPathogenic
Select item 1364212	NM_058179.4(PSAT1):c.80A>G (p.Lys27Arg)	PSAT1 (K27R)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 2061743	NM_058179.4(PSAT1):c.82_83del (p.Glu28fs)	PSAT1 (E28fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 731921	NM_058179.4(PSAT1):c.90A>G (p.Leu30=)	PSAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978478	NM_058179.4(PSAT1):c.92A>G (p.Asp31Gly)	PSAT1 (D31G)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
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 2993383	NM_058179.4(PSAT1):c.99A>G (p.Lys33=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
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 2916545	NM_058179.4(PSAT1):c.108C>T (p.Gly36=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1492981	NM_058179.4(PSAT1):c.118C>G (p.Leu40Val)	PSAT1 (L40V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 802488	NM_058179.4(PSAT1):c.121+5G>A	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1557436	NM_058179.4(PSAT1):c.121+16G>A	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1648068	NM_058179.4(PSAT1):c.122-17T>C	PSAT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2769934	NM_058179.4(PSAT1):c.122-15T>C	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1988334	NM_058179.4(PSAT1):c.122-9_122-5del	PSAT1	Microsatellite (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1545794	NM_058179.4(PSAT1):c.122-9C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1502312	NM_058179.4(PSAT1):c.122-1G>C	PSAT1	Single nucleotide variant (splice acceptor variant)	Neu-Laxova syndrome 2	GLikely pathogenic
Select item 1917641	NM_058179.4(PSAT1):c.135G>A (p.Arg45=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
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 1951748	NM_058179.4(PSAT1):c.150C>T (p.Ala50=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
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 1345069	NM_058179.4(PSAT1):c.155T>C (p.Ile52Thr)	PSAT1 (I52T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1638534	NM_058179.4(PSAT1):c.162C>T (p.Asn54=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1471371	NM_058179.4(PSAT1):c.164A>T (p.Asn55Ile)	PSAT1 (N55I)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
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 1467455	NM_058179.4(PSAT1):c.175C>G (p.Leu59Val)	PSAT1 (L59V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 2714309	NM_058179.4(PSAT1):c.177T>A (p.Leu59=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 578992	NM_058179.4(PSAT1):c.178del (p.Val60fs)	PSAT1 (V60fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 849232	NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)	PSAT1 (R61W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2885038	NM_058179.4(PSAT1):c.191+8T>A	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1630514	NM_058179.4(PSAT1):c.191+20A>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2957730	NM_058179.4(PSAT1):c.192-17C>T	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2050109	NM_058179.4(PSAT1):c.192-16C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1456661	NM_058179.4(PSAT1):c.192-14A>C	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1617834	NM_058179.4(PSAT1):c.198T>A (p.Val66=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1429694	NM_058179.4(PSAT1):c.211A>G (p.Lys71Glu)	PSAT1 (K71E)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1613443	NM_058179.4(PSAT1):c.225G>T (p.Leu75=)	PSAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2097356	NM_058179.4(PSAT1):c.228del (p.Gly77fs)	PSAT1 (G77fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 913715	NM_058179.4(PSAT1):c.231A>T (p.Gly77=)	PSAT1	Single nucleotide variant (synonymous variant)	PSAT deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1380268	NM_058179.4(PSAT1):c.233G>T (p.Gly78Val)	PSAT1 (G78V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1588137	NM_058179.4(PSAT1):c.240C>T (p.Cys80=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
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 1481380	NM_058179.4(PSAT1):c.251G>T (p.Ser84Ile)	PSAT1 (S84I)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1429836	NM_058179.4(PSAT1):c.260C>A (p.Pro87His)	PSAT1 (P87H)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1654246	NM_058179.4(PSAT1):c.261C>T (p.Pro87=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2771210	NM_058179.4(PSAT1):c.267C>T (p.Asn89=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 913716	NM_058179.4(PSAT1):c.270C>T (p.Leu90=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 764428	NM_058179.4(PSAT1):c.270C>G (p.Leu90=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1638658	NM_058179.4(PSAT1):c.291G>A (p.Arg97=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
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 2835713	NM_058179.4(PSAT1):c.294T>C (p.Cys98=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 372478	NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val)	PSAT1 (A99V)	Indel (missense variant)	not provided +1 more	GPathogenic
Select item 1585136	NM_058179.4(PSAT1):c.297T>A (p.Ala99=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 367454	NM_058179.4(PSAT1):c.297T>G (p.Ala99=)	PSAT1	Single nucleotide variant (synonymous variant)	PSAT deficiency +2 more	GBenign
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 2966170	NM_058179.4(PSAT1):c.324A>C (p.Ser108=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1995834	NM_058179.4(PSAT1):c.328A>G (p.Lys110Glu)	PSAT1 (K110E)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
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 2054487	NM_058179.4(PSAT1):c.333C>T (p.Ala111=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
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)	PSAT deficiency +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 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 542040	NM_058179.4(PSAT1):c.348G>A (p.Lys116=)	PSAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2722660	NM_058179.4(PSAT1):c.357del (p.Thr120fs)	PSAT1 (T120fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 2118225	NM_058179.4(PSAT1):c.357G>A (p.Gly119=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1994959	NM_058179.4(PSAT1):c.358A>G (p.Thr120Ala)	PSAT1 (T120A)	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)	PSAT deficiency +1 more	GLikely benign
Select item 752472	NM_058179.4(PSAT1):c.369C>T (p.Ile123=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 914104	NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)	PSAT1 (V124I)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +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 2051925	NM_058179.4(PSAT1):c.382C>G (p.Leu128Val)	PSAT1 (L128V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
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 779257	NM_058179.4(PSAT1):c.393T>C (p.Tyr131=)	PSAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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