ClinVar for PMC (Select 449697) - ClinVar - NCBI

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Links from PMC

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 954671	NM_174878.3(CLRN1):c.278dup (p.Val95fs)	CLRN1 (V19fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 188726	NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	CLRN1 (S50fs)	Indel	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 48147	NM_174878.3(CLRN1):c.57A>T (p.Ala19=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
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 4396	NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)	CLRN1 (L150P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 4395	NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	CLRN1, CLRN1-AS1 (N48K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +6 more	GPathogenic/Likely pathogenic
Select item 4394	NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet)	CLRN1	Deletion (inframe_indel +2 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 4393	NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)	CLRN1 (M120K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 4392	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic