"Natera, Inc."[submitter] AND "HJV"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292434	NM_213653.4(HJV):c.1257T>G (p.Phe419Leu)	HJV (F419L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 965344	NM_213653.4(HJV):c.1097T>A (p.Leu366Ter)	HJV (L140* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 697003	NM_213653.4(HJV):c.1068T>C (p.Ala356=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 664777	NM_213653.4(HJV):c.1004G>A (p.Arg335Gln)	HJV (R222Q +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 2366	NM_213653.4(HJV):c.976C>T (p.Arg326Ter)	HJV (R326* +2 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 2A +1 more	GPathogenic
Select item 2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV (G320V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 292430	NM_213653.4(HJV):c.929C>G (p.Ala310Gly)	HJV (A310G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 658524	NM_213653.4(HJV):c.904G>A (p.Glu302Lys)	HJV (E189K +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 292429	NM_213653.4(HJV):c.828C>A (p.Ile276=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A +1 more	GBenign
Select item 2367	NM_213653.4(HJV):c.665T>A (p.Ile222Asn)	HJV (I222N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1169514	NM_213653.4(HJV):c.645C>G (p.Thr215=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 875889	NM_213653.4(HJV):c.510C>T (p.Phe170=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292425	NM_213653.4(HJV):c.435G>C (p.Pro145=)	HJV	Single nucleotide variant (synonymous variant +1 more)	Hemochromatosis type 2A +1 more	GConflicting classifications of pathogenicity
Select item 1018758	NM_213653.4(HJV):c.397_417del (p.Pro133_Gly139del)	HJV	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 699829	NM_213653.4(HJV):c.387G>A (p.Pro129=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 292423	NM_213653.4(HJV):c.345C>T (p.Ile115=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 468532	NM_213653.4(HJV):c.305C>T (p.Ala102Val)	HJV (A102V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1053196	NM_213653.4(HJV):c.275G>C (p.Arg92Pro)	HJV (R92P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 646197	NM_213653.4(HJV):c.220del (p.Val74fs)	HJV (V74fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 219585	NM_213653.4(HJV):c.189AGG[7] (p.Gly69dup)	HJV	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GLikely benign
Select item 220423	NM_213653.4(HJV):c.98-6C>G	HJV	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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Items: 21