ClinVar for Gene (Select 116933) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2786461	NM_174878.3(CLRN1):c.22A>G (p.Ile8Val)	CLRN1, CLRN1-AS1 (I8V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1972207	NM_174878.3(CLRN1):c.31T>C (p.Cys11Arg)	CLRN1-AS1, CLRN1 (C11R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1439542	NM_174878.3(CLRN1):c.8G>A (p.Ser3Asn)	CLRN1, CLRN1-AS1 (S3N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1282853	NR_024066.2(CLRN1-AS1):n.335G>A	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1206858	NR_024066.2(CLRN1-AS1):n.359T>C	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1115310	NM_174878.3(CLRN1):c.12A>G (p.Gln4=)	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1100224	NM_174878.3(CLRN1):c.24C>A (p.Ile8=)	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1098049	NM_174878.3(CLRN1):c.18G>A (p.Lys6=)	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1075882	NM_174878.3(CLRN1):c.31dup (p.Cys11fs)	CLRN1, CLRN1-AS1 (C11fs)	Duplication (non-coding transcript variant +1 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 901610	NM_001195794.1(CLRN1):c.-229A>G	CLRN1-AS1, CLRN1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 901609	NM_001195794.1(CLRN1):c.-186A>G	CLRN1-AS1, CLRN1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 901608	NM_001195794.1(CLRN1):c.-141C>T	CLRN1-AS1, CLRN1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 901607	NM_001195794.1(CLRN1):c.-91C>T	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 730216	NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)	CLRN1, CLRN1-AS1 (K7I)	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 667610	NM_174878.2(CLRN1):c.-617C>T	CLRN1, CLRN1-AS1	Single nucleotide variant	not provided	GBenign
Select item 642630	NC_000003.12:g.(?_150972446)_(150973009_?)del	CLRN1, CLRN1-AS1	Deletion	not provided	GPathogenic
Select item 555368	NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)	CLRN1, CLRN1-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Usher syndrome type 3 +1 more	GLikely pathogenic
Select item 552903	NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)	CLRN1, CLRN1-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Usher syndrome type 3	GLikely pathogenic
Select item 371376	NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)	CLRN1, CLRN1-AS1 (Q5*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 343821	NM_001195794.1(CLRN1):c.-289G>A	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 343820	NM_001195794.1(CLRN1):c.-274A>C	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 343819	NM_001195794.1(CLRN1):c.-82T>C	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 343818	NM_001195794.1(CLRN1):c.-71A>G	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 149627	GRCh38/hg38 3q25.1(chr3:150889603-151142420)x3	CLRN1, CLRN1-AS1 +6 more	Copy number gain	See cases	GLikely benign
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 48149	NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)	CLRN1, CLRN1-AS1 (S3R)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 48148	NM_174878.3(CLRN1):c.6A>C (p.Pro2=)	CLRN1, CLRN1-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 30574	NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp)	CLRN1-AS1, CLRN1 (L154W +2 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3A	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)	Usher syndrome type 3A +7 more	GPathogenic/Likely pathogenic

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Links from Gene

Items: 31