Related gene-specific medical variations for Gene (Select 92211) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920614	NM_033100.4(CDHR1):c.41T>A (p.Leu14Gln)	CDHR1 (L14Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 2920613	NM_033100.4(CDHR1):c.1729G>T (p.Gly577Ter)	CDHR1 (G577*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 15	GLikely pathogenic
Select item 930755	NM_033100.4(CDHR1):c.1114C>T (p.Pro372Ser)	CDHR1 (P372S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 930441	NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del)	CDHR1	Deletion (inframe_deletion +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 866762	NM_033100.4(CDHR1):c.1468delinsCGC (p.Ser490fs)	CDHR1 (S490fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866601	NM_033100.4(CDHR1):c.1883A>G (p.Glu628Gly)	CDHR1 (E628G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866599	NM_033100.4(CDHR1):c.1162G>A (p.Asp388Asn)	CDHR1 (D388N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866379	NM_033100.4(CDHR1):c.808G>A (p.Ala270Thr)	CDHR1 (A270T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866189	NM_033100.4(CDHR1):c.790del (p.Glu264fs)	CDHR1 (E264fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 811119	NM_033100.4(CDHR1):c.2473C>G (p.Pro825Ala)	CDHR1 (P825A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 301207	NM_033100.4(CDHR1):c.-33C>T	CDHR1, LOC130004216	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 301206	NM_033100.4(CDHR1):c.-64G>A	CDHR1, LOC130004216	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 15	GLikely benign
Select item 262211	NM_033100.4(CDHR1):c.2055C>T (p.Ser685=)	CDHR1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign