"Ambry Genetics"[submitter] AND "CRTAP"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 903321	NM_006371.5(CRTAP):c.13C>A (p.Arg5Ser)	CRTAP, LOC129936436 (R5S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 1359400	NM_006371.5(CRTAP):c.40C>G (p.Leu14Val)	CRTAP, LOC129936436 (L14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1012090	NM_006371.5(CRTAP):c.125T>C (p.Met42Thr)	CRTAP (M42T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 534203	NM_006371.5(CRTAP):c.131T>C (p.Leu44Pro)	CRTAP (L44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2373512	NM_006371.5(CRTAP):c.139G>A (p.Ala47Thr)	CRTAP (A47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403361	NM_006371.5(CRTAP):c.157G>C (p.Asp53His)	CRTAP (D53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3077654	NM_006371.5(CRTAP):c.194G>A (p.Gly65Asp)	CRTAP (G65D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399562	NM_006371.5(CRTAP):c.233G>A (p.Arg78His)	CRTAP (R78H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 572411	NM_006371.5(CRTAP):c.239G>A (p.Ser80Asn)	CRTAP (S80N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 1361965	NM_006371.5(CRTAP):c.308A>G (p.Tyr103Cys)	CRTAP (Y103C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1523059	NM_006371.5(CRTAP):c.325T>C (p.Phe109Leu)	CRTAP (F109L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 2246052	NM_006371.5(CRTAP):c.331G>A (p.Gly111Ser)	CRTAP (G111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614236	NM_006371.5(CRTAP):c.386T>A (p.Phe129Tyr)	CRTAP (F129Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465812	NM_006371.5(CRTAP):c.456G>C (p.Gln152His)	CRTAP (Q152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1429223	NM_006371.5(CRTAP):c.514C>G (p.Leu172Val)	CRTAP (L172V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315012	NM_006371.5(CRTAP):c.560A>T (p.Tyr187Phe)	CRTAP (Y187F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 344808	NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys)	CRTAP (E195K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2514739	NM_006371.5(CRTAP):c.612G>C (p.Lys204Asn)	CRTAP (K204N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1345499	NM_006371.5(CRTAP):c.742G>A (p.Glu248Lys)	CRTAP (E248K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2614405	NM_006371.5(CRTAP):c.890T>C (p.Met297Thr)	CRTAP (M247T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 20