"Ambry Genetics"[submitter] AND "CRHR1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2402338	NM_004382.5(CRHR1):c.61G>A (p.Val21Ile)	CRHR1, LINC02210-CRHR1 (V21I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2393422	NM_004382.5(CRHR1):c.184C>A (p.Gln62Lys)	CRHR1, LINC02210-CRHR1 (Q62K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2405820	NM_004382.5(CRHR1):c.283G>A (p.Ala95Thr)	LINC02210-CRHR1, CRHR1 (A95T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2548241	NM_004382.5(CRHR1):c.526A>G (p.Met176Val)	CRHR1, LINC02210-CRHR1 (M176V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531836	NM_004382.5(CRHR1):c.553G>A (p.Val185Met)	CRHR1, LINC02210-CRHR1 (V145M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521836	NM_004382.5(CRHR1):c.871G>A (p.Val291Ile)	CRHR1, LINC02210-CRHR1 (V116I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402286	NM_004382.5(CRHR1):c.1021C>T (p.Arg341Trp)	CRHR1, LINC02210-CRHR1 (R166W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364082	NM_004382.5(CRHR1):c.1027G>A (p.Val343Ile)	LINC02210-CRHR1, CRHR1 (V303I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382057	NM_004382.5(CRHR1):c.1138C>T (p.Arg380Trp)	CRHR1, LINC02210-CRHR1 (R366W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance