Related gene-specific medical variations for Gene (Select 7401) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382145	NM_174878.3(CLRN1):c.220T>A (p.Cys74Ser)	CLRN1 (C74S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3A +1 more	GUncertain significance
Select item 3241183	NM_174878.3(CLRN1):c.190_200dup (p.His67fs)	CLRN1 (H67fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 3241181	NM_174878.3(CLRN1):c.55del (p.Ala19fs)	CLRN1 (A19fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
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 2680850	NM_174878.3(CLRN1):c.496G>T (p.Glu166Ter)	CLRN1 (E166* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680849	NM_174878.3(CLRN1):c.109dup (p.Thr37fs)	CLRN1 (T37fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680848	NM_174878.3(CLRN1):c.433+1G>T	CLRN1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680847	NM_174878.3(CLRN1):c.591dup (p.Val198fs)	CLRN1 (V198fs +1 more)	Duplication (frameshift variant +3 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680845	NM_174878.3(CLRN1):c.209dup (p.Val71fs)	CLRN1 (V71fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680844	NM_174878.3(CLRN1):c.271A>T (p.Lys91Ter)	CLRN1 (K15* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680843	NM_174878.3(CLRN1):c.195_201dup (p.Gly68fs)	CLRN1 (G68fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680842	NM_174878.3(CLRN1):c.150_151del (p.Gly51fs)	CLRN1 (G51fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680841	NM_174878.3(CLRN1):c.129del (p.Ala44fs)	CLRN1 (A44fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 1972207	NM_174878.3(CLRN1):c.31T>C (p.Cys11Arg)	CLRN1, CLRN1-AS1 (C11R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1527044	GRCh37/hg19 3q25.1(chr3:150641476-150665244)	CLRN1	Copy number loss	not specified	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 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 991771	NM_174878.3(CLRN1):c.268C>G (p.Leu90Val)	CLRN1 (A147G +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3A	GUncertain significance
Select item 901610	NM_001195794.1(CLRN1):c.-229A>G	CLRN1, CLRN1-AS1	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, CLRN1-AS1	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, CLRN1-AS1	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)	not provided +1 more	GUncertain significance
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 730216	NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)	CLRN1, CLRN1-AS1 (K7I)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 687573	GRCh37/hg19 3q25.1(chr3:150647395-150665244)x1	CLRN1	Copy number loss	not provided	GUncertain significance
Select item 618568	NM_174878.3(CLRN1):c.43G>A (p.Val15Met)	CLRN1 (V15M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	Hearing impairment +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)	Usher syndrome type 3 +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)	not provided +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 48149	NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)	CLRN1, CLRN1-AS1 (S3R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 48148	NM_174878.3(CLRN1):c.6A>C (p.Pro2=)	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign

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Items: 38