ClinVar for MedGen (Select 1633287) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579118	NM_006623.4(PHGDH):c.765del (p.Ala257fs)	PHGDH (A257fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 1	GPathogenic
Select item 2169478	NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)	PHGDH (M1L)	Single nucleotide variant (missense variant +1 more)	PHGDH deficiency	GPathogenic
Select item 2160748	NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)	PHGDH (G131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2095806	NM_006623.4(PHGDH):c.1394del (p.Leu465fs)	PHGDH (L465fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2076108	NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)	PHGDH (S37G)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 2070861	NM_006623.4(PHGDH):c.87G>T (p.Gln29His)	PHGDH (Q29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1520226	NM_006623.4(PHGDH):c.1209+4C>T	PHGDH	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 1 +1 more	GUncertain significance
Select item 1422796	NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala)	PHGDH (S512A)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GUncertain significance
Select item 1337073	NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe)	PHGDH (S311F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1331415	NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)	PHGDH (M1T)	Single nucleotide variant (missense variant +1 more)	PHGDH deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1327653	NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln)	PHGDH (R469Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1308575	NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly)	PHGDH (E40G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1300937	NM_006623.4(PHGDH):c.689G>A (p.Arg230His)	PHGDH (R230H)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GUncertain significance
Select item 1180454	NM_006623.4(PHGDH):c.1209+149A>T	PHGDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1180453	NM_006623.4(PHGDH):c.792+16C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency +1 more	GBenign
Select item 1163153	NM_006623.4(PHGDH):c.214G>A (p.Val72Met)	PHGDH (V72M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 1163152	NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr)	PHGDH (A61T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +3 more	GUncertain significance
Select item 1098314	NM_006623.4(PHGDH):c.357-1G>A	PHGDH	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1059873	NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser)	PHGDH (N449S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1029063	NM_006623.4(PHGDH):c.910G>A (p.Val304Met)	PHGDH (V304M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +1 more	GUncertain significance
Select item 1029062	NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)	PHGDH (R268W)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +1 more	GUncertain significance
Select item 1029061	NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)	PHGDH (A88T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +1 more	GUncertain significance
Select item 990733	NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)	PHGDH (T141I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 968090	NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro)	PHGDH (Q189P)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 964779	NM_006623.4(PHGDH):c.412-1G>C	PHGDH	Single nucleotide variant (splice acceptor variant)	Neu-Laxova syndrome 1 +1 more	GLikely pathogenic
Select item 875373	NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly)	PHGDH (E159G)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +1 more	GUncertain significance
Select item 875371	NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys)	PHGDH (E134K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 874455	NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln)	PHGDH (R270Q)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 836495	NM_006623.4(PHGDH):c.1078+1G>A	PHGDH	Single nucleotide variant (splice donor variant)	Neu-Laxova syndrome 1 +1 more	GLikely pathogenic
Select item 806198	NM_006623.4(PHGDH):c.901del (p.Val301fs)	PHGDH (V301fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 791736	NM_006623.4(PHGDH):c.510+6A>G	PHGDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 790916	NM_006623.4(PHGDH):c.1158G>T (p.Ala386=)	PHGDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 729954	NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)	PHGDH (A248V)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GConflicting classifications of pathogenicity
Select item 712784	NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)	PHGDH (T329S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 709534	NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)	PHGDH (P99R)	Single nucleotide variant (missense variant)	PHGDH deficiency +1 more	GLikely benign
Select item 656320	NM_006623.4(PHGDH):c.946G>A (p.Val316Met)	PHGDH (V316M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +1 more	GUncertain significance
Select item 647932	NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser)	PHGDH (A366S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 635039	NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr)	PHGDH (A373T)	Single nucleotide variant (missense variant)	PHGDH deficiency +1 more	GUncertain significance
Select item 633351	NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys)	PHGDH (E420K)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GUncertain significance
Select item 587637	NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys)	PHGDH (R236C)	Single nucleotide variant (missense variant)	PHGDH deficiency +1 more	GUncertain significance
Select item 581769	NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)	PHGDH (G228W)	Single nucleotide variant (missense variant)	PHGDH-related condition +3 more	GConflicting classifications of pathogenicity
Select item 536421	NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)	PHGDH (L199V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 536420	NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp)	PHGDH (A248D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 522743	NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	PHGDH (R344*)	Single nucleotide variant (nonsense)	Neu-Laxova syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 496330	NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)	PHGDH (R491W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 452805	NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly)	PHGDH (S14G)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GUncertain significance
Select item 452434	NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)	PHGDH (G419R)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +3 more	GUncertain significance
Select item 447938	NM_006623.4(PHGDH):c.792+6T>G	PHGDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 445502	NM_006623.4(PHGDH):c.357-17T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency +2 more	GBenign/Likely benign
Select item 378360	NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)	PHGDH (R163W)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GUncertain significance
Select item 292321	NM_006623.4(PHGDH):c.1326G>A (p.Thr442=)	PHGDH	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 1 +2 more	GBenign
Select item 292320	NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg)	PHGDH (G429R)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 292316	NM_006623.4(PHGDH):c.916A>G (p.Met306Val)	PHGDH (M306V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +3 more	GUncertain significance
Select item 292313	NM_006623.4(PHGDH):c.624T>C (p.Pro208=)	PHGDH	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 1 +3 more	GBenign/Likely benign
Select item 292307	NM_006623.4(PHGDH):c.318C>T (p.Ala106=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency +2 more	GBenign/Likely benign
Select item 292306	NM_006623.4(PHGDH):c.139-13T>C	PHGDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 292300	NM_006623.3(PHGDH):c.-101G>C	PHGDH	Single nucleotide variant	Neu-Laxova syndrome 1 +2 more	GBenign
Select item 292299	NM_006623.3(PHGDH):c.-140A>G	PHGDH	Single nucleotide variant	Neu-Laxova syndrome 1 +2 more	GBenign
Select item 280721	NM_006623.4(PHGDH):c.290+2T>C	PHGDH	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 156361	NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)	PHGDH (A286P)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1	GPathogenic
Select item 156360	NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys)	PHGDH (E265K)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1	GPathogenic
Select item 139535	NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)	PHGDH (R163Q)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GConflicting classifications of pathogenicity
Select item 139534	NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)	PHGDH (G140R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3872	NM_006623.4(PHGDH):c.781G>A (p.Val261Met)	PHGDH (V261M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3871	NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	PHGDH (G377S)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GPathogenic/Likely pathogenic
Select item 3870	NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)	PHGDH (R135W)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 3868	NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)	PHGDH (V425M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 3867	NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	PHGDH (V490M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GPathogenic/Likely pathogenic

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Items: 68