ClinVar for MedGen (Select 400935) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064680	NM_006623.4(PHGDH):c.304A>T (p.Asn102Tyr)	PHGDH (N102Y)	Single nucleotide variant (missense variant)	PHGDH deficiency	GPathogenic
Select item 3024195	NM_006623.4(PHGDH):c.1211T>A (p.Val404Asp)	PHGDH (V404D)	Single nucleotide variant (missense variant)	PHGDH deficiency	GPathogenic
Select item 3021890	NM_006623.4(PHGDH):c.357-18C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 3016402	NM_006623.4(PHGDH):c.695T>A (p.Val232Glu)	PHGDH (V232E)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 3011528	NM_006623.4(PHGDH):c.1078+18C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 3009861	NM_006623.4(PHGDH):c.511-19C>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 3007972	NM_006623.4(PHGDH):c.793-20A>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 3005476	NM_006623.4(PHGDH):c.356+11G>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2999016	NM_006623.4(PHGDH):c.1341G>T (p.Gly447=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2998601	NM_006623.4(PHGDH):c.396A>G (p.Lys132=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2994961	NM_006623.4(PHGDH):c.139-15T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2994127	NM_006623.4(PHGDH):c.1209+16C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2992512	NM_006623.4(PHGDH):c.408G>A (p.Lys136=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2988381	NM_006623.4(PHGDH):c.1108C>T (p.Leu370=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2987793	NM_006623.4(PHGDH):c.946-11A>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2987194	NM_006623.4(PHGDH):c.1467C>A (p.Gly489=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2985669	NM_006623.4(PHGDH):c.1572T>C (p.His524=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2984446	NM_006623.4(PHGDH):c.139-10del	PHGDH	Deletion (intron variant)	PHGDH deficiency	GBenign
Select item 2968827	NM_006623.4(PHGDH):c.139-10dup	PHGDH	Duplication (intron variant)	PHGDH deficiency	GBenign
Select item 2967514	NM_006623.4(PHGDH):c.476_477del (p.Glu159fs)	PHGDH (E159fs)	Microsatellite (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2959758	NM_006623.4(PHGDH):c.366C>T (p.Pro122=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2920116	NM_006623.4(PHGDH):c.511-15C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2919278	NM_006623.4(PHGDH):c.644-20G>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2917536	NM_006623.4(PHGDH):c.1332A>C (p.Val444=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2915448	NM_006623.4(PHGDH):c.162C>G (p.Arg54=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2912970	NM_006623.4(PHGDH):c.793-14C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2911945	NM_006623.4(PHGDH):c.1047C>T (p.Ser349=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2909839	NM_006623.4(PHGDH):c.249G>T (p.Val83=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2902612	NM_006623.4(PHGDH):c.510+18C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2899935	NM_006623.4(PHGDH):c.1079-6C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2898778	NM_006623.4(PHGDH):c.336A>C (p.Gly112=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2897818	NM_006623.4(PHGDH):c.511-14T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2895316	NM_006623.4(PHGDH):c.105C>T (p.Asn35=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2894774	NM_006623.4(PHGDH):c.643+13T>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2894303	NM_006623.4(PHGDH):c.981A>T (p.Pro327=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2893082	NM_006623.4(PHGDH):c.1089G>C (p.Leu363=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2884908	NM_006623.4(PHGDH):c.138+12G>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2883978	NM_006623.4(PHGDH):c.399G>A (p.Trp133Ter)	PHGDH (W133*)	Single nucleotide variant (nonsense)	PHGDH deficiency	GPathogenic
Select item 2881672	NM_006623.4(PHGDH):c.793-15T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2878783	NM_006623.4(PHGDH):c.1209+7C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2877939	NM_006623.4(PHGDH):c.72A>G (p.Gln24=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2871121	NM_006623.4(PHGDH):c.94_110del (p.Glu32fs)	PHGDH (E32fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2866856	NM_006623.4(PHGDH):c.412-1G>A	PHGDH	Single nucleotide variant (splice acceptor variant)	PHGDH deficiency	GLikely pathogenic
Select item 2861710	NM_006623.4(PHGDH):c.291-6C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2860681	NM_006623.4(PHGDH):c.1209+14C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2860121	NM_006623.4(PHGDH):c.457C>T (p.Leu153=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2858025	NM_006623.4(PHGDH):c.992del (p.Pro331fs)	PHGDH (P331fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2856545	NM_006623.4(PHGDH):c.792+17C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2856136	NM_006623.4(PHGDH):c.1140A>G (p.Lys380=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2855377	NM_006623.4(PHGDH):c.643+20G>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2853774	NM_006623.4(PHGDH):c.139-7G>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2851357	NM_006623.4(PHGDH):c.509del (p.Lys170fs)	PHGDH (K170fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2850376	NM_006623.4(PHGDH):c.139-5T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2850067	NM_006623.4(PHGDH):c.1206C>T (p.Leu402=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2849689	NM_006623.4(PHGDH):c.1282del (p.Ala428fs)	PHGDH (A428fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2848077	NM_006623.4(PHGDH):c.1440C>G (p.Thr480=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2847669	NM_006623.4(PHGDH):c.1473G>T (p.Arg491=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2847553	NM_006623.4(PHGDH):c.411+16G>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2846538	NM_006623.4(PHGDH):c.891G>A (p.Glu297=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2846168	NM_006623.4(PHGDH):c.972C>G (p.Ala324=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2845592	NM_006623.4(PHGDH):c.1560G>T (p.Ala520=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2845254	NM_006623.4(PHGDH):c.138+1G>T	PHGDH	Single nucleotide variant (splice donor variant)	PHGDH deficiency	GLikely pathogenic
Select item 2845140	NM_006623.4(PHGDH):c.945+17G>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2839770	NM_006623.4(PHGDH):c.290+16T>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2839596	NM_006623.4(PHGDH):c.644-17G>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2838714	NM_006623.4(PHGDH):c.290+18_290+25del	PHGDH	Deletion (intron variant)	PHGDH deficiency	GLikely benign
Select item 2835855	NM_006623.4(PHGDH):c.1131C>G (p.Gly377=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2834887	NM_006623.4(PHGDH):c.511-16T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2832844	NM_006623.4(PHGDH):c.290+14G>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2831313	NM_006623.4(PHGDH):c.511-9T>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2830289	NM_006623.4(PHGDH):c.357-4G>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2830165	NM_006623.4(PHGDH):c.218_219insTT (p.Gly74fs)	PHGDH (G74fs)	Insertion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2823455	NM_006623.4(PHGDH):c.846C>T (p.Pro282=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2823398	NM_006623.4(PHGDH):c.264A>G (p.Ala88=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2823257	NM_006623.4(PHGDH):c.68T>A (p.Leu23Ter)	PHGDH (L23*)	Single nucleotide variant (nonsense)	PHGDH deficiency	GPathogenic
Select item 2822145	NM_006623.4(PHGDH):c.385A>T (p.Lys129Ter)	PHGDH (K129*)	Single nucleotide variant (nonsense)	PHGDH deficiency	GPathogenic
Select item 2819083	NM_006623.4(PHGDH):c.357-16G>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2817080	NM_006623.4(PHGDH):c.438G>A (p.Lys146=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2813526	NM_006623.4(PHGDH):c.139-11T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2813247	NM_006623.4(PHGDH):c.1089del (p.Lys364fs)	PHGDH (K364fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2809745	NM_006623.4(PHGDH):c.1210-20A>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2809119	NM_006623.4(PHGDH):c.753T>A (p.Ser251=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2807585	NM_006623.4(PHGDH):c.946-16C>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2806026	NM_006623.4(PHGDH):c.1587C>T (p.Phe529=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2801844	NM_006623.4(PHGDH):c.644-9T>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2800895	NM_006623.4(PHGDH):c.511-17C>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2800454	NM_006623.4(PHGDH):c.291-7T>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2799725	NM_006623.4(PHGDH):c.139-18A>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2797105	NM_006623.4(PHGDH):c.644-18T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2795926	NM_006623.4(PHGDH):c.945+15C>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2784821	NM_006623.4(PHGDH):c.511-20T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2783899	NM_006623.4(PHGDH):c.665_666dup (p.Ala223fs)	PHGDH (A223fs)	Duplication (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2781560	NM_006623.4(PHGDH):c.285T>C (p.Val95=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2780196	NM_006623.4(PHGDH):c.1079-17C>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2779632	NM_006623.4(PHGDH):c.139-2A>G	PHGDH	Single nucleotide variant (splice acceptor variant)	PHGDH deficiency	GLikely pathogenic
Select item 2777066	NM_006623.4(PHGDH):c.735G>C (p.Leu245=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2775478	NM_006623.4(PHGDH):c.403C>A (p.Arg135=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2771127	NM_006623.4(PHGDH):c.1078+11G>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2769322	NM_006623.4(PHGDH):c.1393C>T (p.Leu465=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2768247	NM_006623.4(PHGDH):c.412-16G>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign

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