"Ambry Genetics"[submitter] AND "CDHR1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2175391	NM_033100.4(CDHR1):c.106A>G (p.Asn36Asp)	CDHR1 (N36D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2049759	NM_033100.4(CDHR1):c.155C>G (p.Ser52Cys)	CDHR1 (S52C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1004486	NM_033100.4(CDHR1):c.160G>A (p.Val54Ile)	CDHR1 (V54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2371629	NM_033100.4(CDHR1):c.253C>G (p.Pro85Ala)	CDHR1 (P85A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292155	NM_033100.4(CDHR1):c.254C>T (p.Pro85Leu)	CDHR1 (P85L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2597383	NM_033100.4(CDHR1):c.257C>T (p.Thr86Ile)	CDHR1 (T86I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405260	NM_033100.4(CDHR1):c.311T>C (p.Ile104Thr)	CDHR1 (I104T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1528383	NM_033100.4(CDHR1):c.355G>A (p.Glu119Lys)	CDHR1 (E119K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2290698	NM_033100.4(CDHR1):c.401G>C (p.Arg134Thr)	CDHR1 (R134T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1368879	NM_033100.4(CDHR1):c.406A>C (p.Ile136Leu)	CDHR1 (I136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1463148	NM_033100.4(CDHR1):c.412G>A (p.Glu138Lys)	CDHR1 (E138K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 848590	NM_033100.4(CDHR1):c.554G>A (p.Arg185His)	CDHR1 (R185H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1520710	NM_033100.4(CDHR1):c.623T>A (p.Ile208Asn)	CDHR1 (I208N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2139475	NM_033100.4(CDHR1):c.667G>A (p.Asp223Asn)	CDHR1 (D223N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 948235	NM_033100.4(CDHR1):c.686C>T (p.Thr229Ile)	CDHR1 (T229I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1516636	NM_033100.4(CDHR1):c.785G>A (p.Gly262Asp)	CDHR1 (G262D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1913685	NM_033100.4(CDHR1):c.793G>T (p.Val265Leu)	CDHR1 (V265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2545349	NM_033100.4(CDHR1):c.818G>C (p.Gly273Ala)	CDHR1 (G273A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484906	NM_033100.4(CDHR1):c.923C>A (p.Pro308Gln)	CDHR1 (P308Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 878809	NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys)	CDHR1 (R313K)	Single nucleotide variant (missense variant)	CDHR1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2309837	NM_033100.4(CDHR1):c.1123G>C (p.Glu375Gln)	CDHR1 (E375Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 301235	NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)	CDHR1 (R378Q)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 1506484	NM_033100.4(CDHR1):c.1168G>A (p.Gly390Arg)	CDHR1 (G390R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1922216	NM_033100.4(CDHR1):c.1178C>G (p.Ala393Gly)	CDHR1 (A393G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 968078	NM_033100.4(CDHR1):c.1187A>C (p.Asn396Thr)	CDHR1 (N396T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1102611	NM_033100.4(CDHR1):c.1328C>T (p.Ala443Val)	CDHR1 (A443V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2607214	NM_033100.4(CDHR1):c.1378A>G (p.Ile460Val)	CDHR1 (I460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849892	NM_033100.4(CDHR1):c.1417G>A (p.Asp473Asn)	CDHR1 (D473N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 301239	NM_033100.4(CDHR1):c.1432G>A (p.Val478Ile)	CDHR1 (V478I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 811056	NM_033100.4(CDHR1):c.1445C>T (p.Pro482Leu)	CDHR1 (P482L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 937143	NM_033100.4(CDHR1):c.1453G>A (p.Ala485Thr)	CDHR1 (A485T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 301243	NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)	CDHR1 (V491M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1016820	NM_033100.4(CDHR1):c.1516G>A (p.Glu506Lys)	CDHR1 (E506K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 833779	NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)	CDHR1 (T584M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1918692	NM_033100.4(CDHR1):c.2002A>G (p.Thr668Ala)	CDHR1 (T668A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 846131	NM_033100.4(CDHR1):c.2042C>A (p.Thr681Asn)	CDHR1 (T681N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2313685	NM_033100.4(CDHR1):c.2156T>C (p.Ile719Thr)	CDHR1 (I719T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267671	NM_033100.4(CDHR1):c.2183A>G (p.Lys728Arg)	CDHR1 (K728R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1362955	NM_033100.4(CDHR1):c.2207T>C (p.Met736Thr)	CDHR1 (M736T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1036830	NM_033100.4(CDHR1):c.2210G>A (p.Arg737Gln)	CDHR1 (R737Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335337	NM_033100.4(CDHR1):c.2375C>T (p.Pro792Leu)	CDHR1 (P792L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 852853	NM_033100.4(CDHR1):c.2377G>A (p.Ala793Thr)	CDHR1 (A793T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2338032	NM_033100.4(CDHR1):c.2416G>T (p.Ala806Ser)	CDHR1 (A806S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2054872	NM_033100.4(CDHR1):c.2455A>G (p.Thr819Ala)	CDHR1 (T819A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2255120	NM_001171971.3(CDHR1):c.2210T>C (p.Val737Ala)	CDHR1 (V737A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 45