"Eurofins Ntd Llc (ga)"[submitter] AND "LOC107303340"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496876	NM_000551.4(VHL):c.341-37G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 167827	NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	LOC107303340, VHL	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 288749	NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	LOC107303340, VHL (Q132*)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 195093	NM_000551.4(VHL):c.449del (p.Asn150fs)	LOC107303340, VHL (N150fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43603	NM_000551.4(VHL):c.464-1G>A	LOC107303340, VHL	Single nucleotide variant (splice acceptor variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 2217	NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	LOC107303340, VHL (R161* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic
Select item 93329	NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	LOC107303340, VHL (S168fs +1 more)	Insertion (frameshift variant +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic/Likely pathogenic
Select item 196284	NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	LOC107303340, VHL (K196* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database

ClinVar