C0019562[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560736	NM_000551.4(VHL):c.-73C>T	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 517152	NM_000551.4(VHL):c.-61_-51dup	VHL	Duplication (5 prime UTR variant)	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 342400	NM_000551.4(VHL):c.-64C>T	VHL	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182981	NM_000551.4(VHL):c.5C>T (p.Pro2Leu)	VHL (P2L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 238114	NM_000551.4(VHL):c.7C>T (p.Arg3Trp)	VHL (R3W)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 93330	NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	VHL (P25L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 220918	NM_000551.4(VHL):c.114C>T (p.Ser38=)	VHL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 43596	NM_000551.4(VHL):c.150C>G (p.Ala50=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 161402	NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	VHL (E52K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 135951	NM_000551.4(VHL):c.183C>G (p.Pro61=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 526697	NM_000551.4(VHL):c.216C>T (p.Ser72=)	VHL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2233	NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	VHL (P81S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 36899	NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	VHL (P81L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GPathogenic/Likely pathogenic
Select item 137905	NM_000551.4(VHL):c.246C>T (p.Arg82=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 184664	NM_000551.4(VHL):c.275A>T (p.Asp92Val)	VHL (D92V)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +6 more	GConflicting classifications of pathogenicity
Select item 36901	NM_000551.4(VHL):c.340+5G>C	VHL	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 135956	NM_000551.4(VHL):c.416C>G (p.Ser139Cys)	LOC107303340, VHL (S139C)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +5 more	GUncertain significance
Select item 371833	NM_000551.4(VHL):c.439A>G (p.Ile147Val)	LOC107303340, VHL (I147V)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 1981572	NM_000551.4(VHL):c.464-7C>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 658462	NM_000551.4(VHL):c.572A>G (p.His191Arg)	LOC107303340, VHL (H191R +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2232	NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	VHL, LOC107303340 (R200W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 421823	NM_000551.4(VHL):c.614G>A (p.Arg205His)	LOC107303340, VHL (R205H +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +5 more	GConflicting classifications of pathogenicity

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Items: 22