M Saito - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4658	NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)	KIF1B (Q98L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1	GPathogenic
Select item 2268	NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	MFN2 (R94Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GPathogenic
Select item 992238	NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)	SDHB	Deletion (nonsense)	Hereditary pheochromocytoma-paraganglioma +4 more	GPathogenic
Select item 1504593	NM_001034116.2(EIF2B4):c.955A>G (p.Ile319Val)	EIF2B4, GTF3C2-AS2 (I339V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671577	NM_001034116.2(EIF2B4):c.620T>C (p.Met207Thr)	EIF2B4 (M12T +6 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 6674	NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)	DYSF (W999C +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +18 more	GPathogenic
Select item 11876	NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	PRSS1, TRB (R122H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 258802	NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)	TRB, PRSS1 (G208A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1774348	NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro)	ENG, LOC102723566 (L324P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 13911	NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	RET (C634F +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 15746	NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)	HBA1, LOC106804613 (K17E)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 10715	NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	GLA, RPL36A-HNRNPH2 (R301Q +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 195028	NM_000169.3(GLA):c.335G>A (p.Arg112His)	GLA, HNRNPH2 +1 more (R112H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 10595	NM_000133.4(F9):c.709C>T (p.Gln237Ter)	F9 (Q237* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenic
Select item 1331043	NM_000133.4(F9):c.839-1G>A	F9	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic