"PreventionGenetics, part of Exact Sciences"[submitter] AND "HAVCR2"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782945	NM_032782.5(HAVCR2):c.830C>T (p.Pro277Leu)	HAVCR2 (P277L)	Single nucleotide variant (missense variant)	HAVCR2-related disorder +1 more	GBenign
Select item 3053827	NM_032782.5(HAVCR2):c.623G>C (p.Gly208Ala)	HAVCR2 (G208A)	Single nucleotide variant (missense variant)	HAVCR2-related disorder	GLikely benign
Select item 3041586	NM_032782.5(HAVCR2):c.512T>C (p.Ile171Thr)	HAVCR2 (I171T)	Single nucleotide variant (missense variant)	HAVCR2-related disorder	GBenign
Select item 3060989	NM_032782.5(HAVCR2):c.479-30CT[12]	HAVCR2	Microsatellite (intron variant)	HAVCR2-related disorder	GLikely benign
Select item 3055791	NM_032782.5(HAVCR2):c.479-30CT[13]	HAVCR2	Microsatellite (intron variant)	HAVCR2-related disorder	GLikely benign
Select item 2655989	NM_032782.5(HAVCR2):c.479-30CT[9]	HAVCR2	Microsatellite (intron variant)	HAVCR2-related disorder +1 more	GBenign/Likely benign
Select item 3042551	NM_032782.5(HAVCR2):c.319A>T (p.Ile107Phe)	HAVCR2 (I107F)	Single nucleotide variant (missense variant)	HAVCR2-related disorder	GLikely benign
Select item 626254	NM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile)	HAVCR2 (T101I)	Single nucleotide variant (missense variant)	HAVCR2-related disorder +1 more	GBenign/Likely benign
Select item 626252	NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)	HAVCR2 (Y82C)	Single nucleotide variant (missense variant)	HAVCR2-related disorder +2 more	GConflicting classifications of pathogenicity