ClinVar for MedGen (Select 1633287) - ClinVar

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Items: 28

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791181.	NM_006623.4(PHGDH):c.765del (p.Ala257fs) GRCh37: Chr1:120278038 GRCh38: Chr1:119735415	PHGDH	A257fs	Neu-Laxova syndrome 1	Pathogenic (Oct 17, 2018)	criteria provided, single submitter
Select item 15202262.	NM_006623.4(PHGDH):c.1209+4C>T GRCh37: Chr1:120284524 GRCh38: Chr1:119741901	PHGDH		Neu-Laxova syndrome 1, PHGDH deficiency, PHGDH deficiency	Uncertain significance (May 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11804543.	NM_006623.4(PHGDH):c.1209+149A>T GRCh37: Chr1:120284669 GRCh38: Chr1:119742046	PHGDH		Neu-Laxova syndrome 1, not provided, PHGDH deficiency	Benign (Jul 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11804534.	NM_006623.4(PHGDH):c.792+16C>T GRCh37: Chr1:120278082 GRCh38: Chr1:119735459	PHGDH		Neu-Laxova syndrome 1, PHGDH deficiency	Benign (Jul 8, 2021)	criteria provided, single submitter
Select item 10983145.	NM_006623.4(PHGDH):c.357-1G>A GRCh37: Chr1:120269473 GRCh38: Chr1:119726850	PHGDH		Neu-Laxova syndrome 1, not provided, PHGDH deficiency	Pathogenic/Likely pathogenic (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10290636.	NM_006623.4(PHGDH):c.910G>A (p.Val304Met) GRCh37: Chr1:120279854 GRCh38: Chr1:119737231	PHGDH	V304M	PHGDH deficiency, Neu-Laxova syndrome 1	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10290627.	NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) GRCh37: Chr1:120279746 GRCh38: Chr1:119737123	PHGDH	R268W	PHGDH deficiency, Neu-Laxova syndrome 1	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10290618.	NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) GRCh37: Chr1:120263916 GRCh38: Chr1:119721293	PHGDH	A88T	PHGDH deficiency, Neu-Laxova syndrome 1	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8364959.	NM_006623.4(PHGDH):c.1078+1G>A GRCh37: Chr1:120283142 GRCh38: Chr1:119740519	PHGDH		Neu-Laxova syndrome 1, PHGDH deficiency, PHGDH deficiency	Likely pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72995410.	NM_006623.4(PHGDH):c.743C>T (p.Ala248Val) GRCh37: Chr1:120278017 GRCh38: Chr1:119735394	PHGDH	A248V	not provided, Neu-Laxova syndrome 1, PHGDH deficiency	Conflicting interpretations of pathogenicity (Sep 5, 2023)	criteria provided, conflicting interpretations
Select item 65632011.	NM_006623.4(PHGDH):c.946G>A (p.Val316Met) GRCh37: Chr1:120283009 GRCh38: Chr1:119740386	PHGDH	V316M	PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58763712.	NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) GRCh37: Chr1:120277980 GRCh38: Chr1:119735357	PHGDH	R236C	Neu-Laxova syndrome 1, PHGDH deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58176913.	NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) GRCh37: Chr1:120277956 GRCh38: Chr1:119735333	PHGDH	G228W	Neu-Laxova syndrome 1, PHGDH deficiency, not provided	Conflicting interpretations of pathogenicity (Feb 26, 2023)	criteria provided, conflicting interpretations
Select item 52274314.	NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) GRCh37: Chr1:120283093 GRCh38: Chr1:119740470	PHGDH	R344*	not provided, Neu-Laxova syndrome 1, PHGDH deficiency	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49633015.	NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) GRCh37: Chr1:120286532 GRCh38: Chr1:119743909	PHGDH	R491W	not provided, PHGDH deficiency, Neu-Laxova syndrome 1, not specified, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 29232116.	NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) GRCh37: Chr1:120285546 GRCh38: Chr1:119742923	PHGDH		not provided, PHGDH deficiency, Neu-Laxova syndrome 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29231617.	NM_006623.4(PHGDH):c.916A>G (p.Met306Val) GRCh37: Chr1:120279860 GRCh38: Chr1:119737237	PHGDH	M306V	Inborn genetic diseases, PHGDH deficiency, Neu-Laxova syndrome 1, not provided	Uncertain significance (May 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29230018.	NM_006623.3(PHGDH):c.-101G>C GRCh37: Chr1:120254545 GRCh38: Chr1:119711922	PHGDH		Neu-Laxova syndrome 1, PHGDH deficiency, not provided	Benign (Jul 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29229919.	NM_006623.3(PHGDH):c.-140A>G GRCh37: Chr1:120254506 GRCh38: Chr1:119711883	PHGDH		Neu-Laxova syndrome 1, not provided, PHGDH deficiency	Benign (Jul 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 15636120.	NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) GRCh37: Chr1:120279800 GRCh38: Chr1:119737177	PHGDH	A286P	Neu-Laxova syndrome 1	Pathogenic (Sep 4, 2014)	no assertion criteria provided
Select item 15636021.	NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) GRCh37: Chr1:120279737 GRCh38: Chr1:119737114	PHGDH	E265K	Neu-Laxova syndrome 1	Pathogenic (Sep 4, 2014)	no assertion criteria provided
Select item 13953522.	NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) GRCh37: Chr1:120269703 GRCh38: Chr1:119727080	PHGDH	R163Q	PHGDH deficiency, Neu-Laxova syndrome 1, not provided	Conflicting interpretations of pathogenicity (Mar 18, 2022)	criteria provided, conflicting interpretations
Select item 13953423.	NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) GRCh37: Chr1:120269633 GRCh38: Chr1:119727010	PHGDH	G140R	PHGDH deficiency	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 387224.	NM_006623.4(PHGDH):c.781G>A (p.Val261Met) GRCh37: Chr1:120278055 GRCh38: Chr1:119735432	PHGDH	V261M	not specified, Neu-Laxova syndrome 1, PHGDH deficiency	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 387125.	NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) GRCh37: Chr1:120284440 GRCh38: Chr1:119741817	PHGDH	G377S	PHGDH deficiency, Neu-Laxova syndrome 1, not provided, PHGDH deficiency	Pathogenic/Likely pathogenic (Jul 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 387026.	NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) GRCh37: Chr1:120269520 GRCh38: Chr1:119726897	PHGDH	R135W	Neu-Laxova syndrome 1, PHGDH deficiency, not provided, PHGDH deficiency	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 386827.	NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) GRCh37: Chr1:120285493 GRCh38: Chr1:119742870	PHGDH	V425M	Neu-Laxova syndrome 1, PHGDH deficiency	Conflicting interpretations of pathogenicity (Mar 25, 2022)	criteria provided, conflicting interpretations
Select item 386728.	NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) GRCh37: Chr1:120286529 GRCh38: Chr1:119743906	PHGDH	V490M	PHGDH deficiency, Neu-Laxova syndrome 1, PHGDH deficiency, See cases	Pathogenic/Likely pathogenic (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 28