C0019562[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216870	NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])	VHL	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 161402	NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	VHL (E52K)	Single nucleotide variant (missense variant)	VHL-related condition +5 more	GConflicting classifications of pathogenicity
Select item 161400	NM_000551.4(VHL):c.235C>T (p.Arg79Cys)	VHL (R79C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +4 more	GUncertain significance
Select item 2233	NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	VHL (P81S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 93328	NM_000551.4(VHL):c.326T>A (p.Ile109Asn)	VHL (I109N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 161401	NM_000551.4(VHL):c.538A>G (p.Ile180Val)	LOC107303340, VHL (I180V +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +4 more	GUncertain significance
Select item 161403	NM_000551.4(VHL):c.556G>A (p.Glu186Lys)	LOC107303340, VHL (E186K +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GUncertain significance
Select item 2232	NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	LOC107303340, VHL (R200W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 801933	NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	LOC107303340, VHL	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity