ClinVar for MedGen (Select 764630) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689194	NM_004285.4(H6PD):c.1514C>G (p.Ala505Gly)	H6PD (A505G +1 more)	Single nucleotide variant (missense variant)	Cortisone reductase deficiency 1	GUncertain significance
Select item 1584487	NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr)	H6PD (A448T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1540015	NM_004285.4(H6PD):c.2019T>C (p.Tyr673=)	H6PD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1288974	NM_004285.4(H6PD):c.741T>C (p.Ala247=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1 +1 more	GBenign
Select item 1269315	NM_004285.4(H6PD):c.636G>A (p.Ala212=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1 +1 more	GBenign
Select item 1264396	NM_004285.4(H6PD):c.2118A>G (p.Ser706=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1 +1 more	GBenign
Select item 1030761	NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln)	H6PD (R381Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 791775	NM_004285.4(H6PD):c.1053C>T (p.Gly351=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1 +1 more	GBenign/Likely benign
Select item 402919	NM_004285.3(H6PD):c.-7_1delCCCAGGCA	H6PD	Microsatellite	not specified +1 more	GBenign
Select item 191261	NM_004285.4(H6PD):c.745+88T>A	H6PD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 31587	NM_004285.4(H6PD):c.325del (p.Arg109fs)	H6PD (R120fs +1 more)	Deletion (frameshift variant)	Cortisone reductase deficiency 1	GPathogenic
Select item 31586	NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter)	H6PD (Y316* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 31585	NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp)	H6PD (G359D +1 more)	Single nucleotide variant (missense variant)	Cortisone reductase deficiency 1	GPathogenic
Select item 31584	NM_004285.4(H6PD):c.960G>A (p.Val320=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1	GPathogenic
Select item 16131	NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln)	H6PD (R453Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 16130	NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer)	H6PD	Insertion (nonsense)	Cortisone reductase deficiency 1	GPathogenic