"Blueprint Genetics"[submitter] AND "CLRN1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188875	NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	CLRN1 (I92fs +2 more)	Duplication (frameshift variant +2 more)	Usher syndrome +7 more	GPathogenic/Likely pathogenic
Select item 867200	NM_174878.3(CLRN1):c.440G>A (p.Cys147Tyr)	CLRN1 (C147Y +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866927	NM_174878.3(CLRN1):c.165del (p.Asp55fs)	CLRN1 (D55fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 865795	NM_174878.3(CLRN1):c.154C>T (p.Gln52Ter)	CLRN1 (Q52*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188726	NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	CLRN1 (S50fs)	Indel	Retinitis pigmentosa +6 more	GPathogenic/Likely pathogenic
Select item 4395	NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	CLRN1, CLRN1-AS1 (N48K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3A +7 more	GPathogenic/Likely pathogenic
Select item 48143	NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)	CLRN1 (N48D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 4399	NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	CLRN1 (C40G)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +4 more	GConflicting classifications of pathogenicity
Select item 30575	NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu)	CLRN1 (P31L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic