C0038454[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 930880	NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)	IFIH1 (N176S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GPathogenic
Select item 374128	NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)	PRKAG2 (P197R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +14 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +15 more	GConflicting classifications of pathogenicity
Select item 523426	NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)	RNF213, RNF213-AS1 (K3887E)	Single nucleotide variant (missense variant)	Patent foramen ovale +6 more	GUncertain significance
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more	GPathogenic/Likely pathogenic