"PreventionGenetics, part of Exact Sciences"[submitter] AND "HAVCR1"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038946	NM_001173393.3(HAVCR1):c.*35G>A	HAVCR1 (E366K)	Single nucleotide variant (3 prime UTR variant +1 more)	HAVCR1-related disorder	GBenign
Select item 3037347	NM_001173393.3(HAVCR1):c.*13C>A	HAVCR1 (C358*)	Single nucleotide variant (3 prime UTR variant +1 more)	HAVCR1-related disorder	GBenign
Select item 3061024	NM_001173393.3(HAVCR1):c.987-10C>A	HAVCR1	Single nucleotide variant (intron variant)	HAVCR1-related disorder	GBenign
Select item 3059623	NM_001173393.3(HAVCR1):c.986+9G>A	HAVCR1	Single nucleotide variant (intron variant)	HAVCR1-related disorder	GBenign
Select item 3050119	NM_001173393.3(HAVCR1):c.660G>A (p.Gln220=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GLikely benign
Select item 3059346	NM_001173393.3(HAVCR1):c.621T>G (p.Thr207=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GBenign
Select item 3060126	NM_001173393.3(HAVCR1):c.619A>G (p.Thr207Ala)	HAVCR1 (T207A)	Single nucleotide variant (missense variant)	HAVCR1-related disorder	GBenign
Select item 3034055	NM_001173393.3(HAVCR1):c.618A>G (p.Thr206=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GLikely benign
Select item 783620	NM_001173393.3(HAVCR1):c.557C>T (p.Thr186Met)	HAVCR1 (T186M)	Single nucleotide variant (missense variant)	HAVCR1-related disorder +1 more	GBenign
Select item 3059144	NM_001173393.3(HAVCR1):c.536T>C (p.Leu179Pro)	HAVCR1 (L179P)	Single nucleotide variant (missense variant)	HAVCR1-related disorder	GBenign
Select item 3039113	NM_001173393.3(HAVCR1):c.521C>T (p.Thr174Met)	HAVCR1 (T174M)	Single nucleotide variant (missense variant)	HAVCR1-related disorder	GBenign
Select item 788993	NM_001173393.3(HAVCR1):c.150C>T (p.Gly50=)	HAVCR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3059705	NM_001173393.3(HAVCR1):c.132C>A (p.Ser44=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GBenign
Select item 3040665	NM_001173393.3(HAVCR1):c.46+5G>A	HAVCR1	Single nucleotide variant (intron variant)	HAVCR1-related disorder	GLikely benign