"GeneDx"[submitter] AND "PHGDH"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 292299	NM_006623.3(PHGDH):c.-140A>G	PHGDH	Single nucleotide variant	not provided +2 more	GBenign
Select item 1300431	NC_000001.11:g.119711913G>A	PHGDH	Single nucleotide variant	not provided	GLikely benign
Select item 292300	NM_006623.3(PHGDH):c.-101G>C	PHGDH	Single nucleotide variant	not provided +2 more	GBenign
Select item 452805	NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly)	PHGDH (S14G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 452435	NM_006623.4(PHGDH):c.109A>T (p.Ser37Cys)	PHGDH (S37C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308575	NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly)	PHGDH (E40G)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GUncertain significance
Select item 1301088	NM_006623.4(PHGDH):c.138+24A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301158	NM_006623.4(PHGDH):c.138+130G>C	LOC129931307, PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245095	NM_006623.4(PHGDH):c.139-150T>C	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294071	NM_006623.4(PHGDH):c.139-136A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 292306	NM_006623.4(PHGDH):c.139-13T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency +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 1280704	NM_006623.4(PHGDH):c.290+156C>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300784	NM_006623.4(PHGDH):c.291-73G>A	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 292307	NM_006623.4(PHGDH):c.318C>T (p.Ala106=)	PHGDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2083394	NM_006623.4(PHGDH):c.319G>A (p.Ala107Thr)	PHGDH (A107T)	Single nucleotide variant (missense variant)	PHGDH deficiency +1 more	GUncertain significance
Select item 1301212	NM_006623.4(PHGDH):c.356+47T>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300796	NM_006623.4(PHGDH):c.356+97G>A	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely 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 1098314	NM_006623.4(PHGDH):c.357-1G>A	PHGDH	Single nucleotide variant (splice acceptor variant)	PHGDH deficiency +2 more	GPathogenic/Likely pathogenic
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 3870	NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)	PHGDH (R135W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1301126	NM_006623.4(PHGDH):c.411+21G>A	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285962	NM_006623.4(PHGDH):c.411+39G>C	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
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 139535	NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)	PHGDH (R163Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1231933	NM_006623.4(PHGDH):c.510+266C>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300687	NM_006623.4(PHGDH):c.511-199A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3343738	NM_006623.4(PHGDH):c.562G>T (p.Val188Phe)	PHGDH (V188F)	Single nucleotide variant (missense variant)	not provided	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 536421	NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)	PHGDH (L199V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GBenign/Likely benign
Select item 2201483	NM_006623.4(PHGDH):c.619A>T (p.Thr207Ser)	PHGDH (T207S)	Single nucleotide variant (missense variant)	PHGDH deficiency +1 more	GUncertain significance
Select item 292313	NM_006623.4(PHGDH):c.624T>C (p.Pro208=)	PHGDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 581769	NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)	PHGDH (G228W)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GConflicting classifications of pathogenicity
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 587637	NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys)	PHGDH (R236C)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 729954	NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)	PHGDH (A248V)	Single nucleotide variant (missense variant)	not provided +2 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 447938	NM_006623.4(PHGDH):c.792+6T>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency +2 more	GBenign/Likely benign
Select item 1284162	NM_006623.4(PHGDH):c.792+65A>T	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264900	NM_006623.4(PHGDH):c.792+221C>T	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300397	NM_006623.4(PHGDH):c.793-305T>C	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707983	NM_006623.4(PHGDH):c.914A>G (p.Asp305Gly)	PHGDH (D305G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292316	NM_006623.4(PHGDH):c.916A>G (p.Met306Val)	PHGDH (M306V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1300642	NM_006623.4(PHGDH):c.945+58G>T	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300874	NM_006623.4(PHGDH):c.946-263G>A	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1326743	NM_006623.4(PHGDH):c.1048C>G (p.Pro350Ala)	PHGDH (P350A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301090	NM_006623.4(PHGDH):c.1078+40T>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238653	NM_006623.4(PHGDH):c.1078+108A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300916	NM_006623.4(PHGDH):c.1078+280A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300855	NM_006623.4(PHGDH):c.1078+302G>A	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301130	NM_006623.4(PHGDH):c.1079-111C>T	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3871	NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	PHGDH (G377S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3370965	NM_006623.4(PHGDH):c.1136T>C (p.Leu379Pro)	PHGDH (L379P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105671	NM_006623.4(PHGDH):c.1176C>T (p.Asn392=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency +1 more	GConflicting classifications of pathogenicity
Select item 780775	NM_006623.4(PHGDH):c.1208A>G (p.Asn403Ser)	PHGDH (N403S)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1522178	NM_006623.4(PHGDH):c.1209+3G>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency +1 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 1289513	NM_006623.4(PHGDH):c.1209+174C>T	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267747	NM_006623.4(PHGDH):c.1209+255A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326442	NM_006623.4(PHGDH):c.1209+287G>A	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301081	NM_006623.4(PHGDH):c.1210-194T>C	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452434	NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)	PHGDH (G419R)	Single nucleotide variant (missense variant)	PHGDH deficiency +3 more	GUncertain significance
Select item 292321	NM_006623.4(PHGDH):c.1326G>A (p.Thr442=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency +2 more	GBenign
Select item 1059873	NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser)	PHGDH (N449S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1327653	NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln)	PHGDH (R469Q)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 1300406	NM_006623.4(PHGDH):c.1448-128A>T	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287243	NM_006623.4(PHGDH):c.1448-52G>T	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 496330	NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)	PHGDH (R491W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 489372	NM_006623.4(PHGDH):c.1567C>T (p.Gln523Ter)	PHGDH (Q523*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1342801	NM_006623.4(PHGDH):c.1583C>T (p.Ala528Val)	PHGDH (A528V)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GConflicting classifications of pathogenicity
Select item 368823	NM_006623.3(PHGDH):c.*200A>G	HMGCS2, PHGDH	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 1282622	NC_000001.11:g.119744318G>C	PHGDH	Single nucleotide variant	not provided	GBenign
Select item 1272994	NC_000001.11:g.119744318G>A	PHGDH	Single nucleotide variant	not provided	GBenign
Select item 1231460	NC_000001.11:g.119744322G>A	PHGDH	Single nucleotide variant	not provided	GBenign
Select item 1266258	NC_000001.11:g.119744327T>C	PHGDH	Single nucleotide variant	not provided	GBenign

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Items: 80