ClinVar for MedGen (Select 481671) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2745158	NM_174878.3(CLRN1):c.138del (p.Val47fs)	CLRN1 (V47fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
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 2680846	NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter)	CLRN1 (Y109* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely 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 2680840	NM_174878.3(CLRN1):c.95T>A (p.Leu32Ter)	CLRN1 (L32*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 2203455	NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter)	CLRN1 (S50*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1971725	NM_174878.3(CLRN1):c.591del (p.Phe197fs)	CLRN1 (F210fs +1 more)	Deletion (frameshift variant +3 more)	not provided +1 more	GPathogenic
Select item 1966493	NM_174878.3(CLRN1):c.190G>C (p.Gly64Arg)	CLRN1 (G64R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1706269	NM_174878.3(CLRN1):c.253+6T>C	CLRN1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1455146	NM_174878.3(CLRN1):c.513T>A (p.Tyr171Ter)	CLRN1 (Y171* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1331448	NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)	CLRN1 (G64R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 61 +2 more	GPathogenic/Likely pathogenic
Select item 1275768	NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs)	CLRN1 (S50fs)	Insertion (frameshift variant +1 more)	Usher syndrome +4 more	GPathogenic
Select item 1075882	NM_174878.3(CLRN1):c.31dup (p.Cys11fs)	CLRN1, CLRN1-AS1 (C11fs)	Duplication (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 991770	NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)	CLRN1 (L108F +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3A +3 more	GUncertain significance
Select item 991769	NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)	CLRN1 (G136R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 932234	NM_174878.3(CLRN1):c.254-2A>G	CLRN1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 651716	NM_174878.3(CLRN1):c.121_136dup (p.Leu46fs)	CLRN1 (L46fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 644615	NM_174878.3(CLRN1):c.578del (p.Phe193fs)	CLRN1 (F206fs +1 more)	Deletion (frameshift variant +3 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 638640	NM_174878.3(CLRN1):c.433+1G>A	CLRN1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 552163	NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)	CLRN1 (Q194* +2 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 504559	NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)	CLRN1 (Q73R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 61 +5 more	GUncertain significance
Select item 371628	NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)	CLRN1 (R207* +1 more)	Single nucleotide variant (nonsense +3 more)	not provided +4 more	GPathogenic
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 188726	NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	CLRN1 (S50fs)	Indel	Retinitis pigmentosa 61 +6 more	GPathogenic/Likely pathogenic
Select item 48146	NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	CLRN1 (A123D +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 61 +5 more	GPathogenic/Likely pathogenic
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
Select item 30574	NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp)	CLRN1, CLRN1-AS1 (L154W +2 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3A	GLikely pathogenic
Select item 4399	NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	CLRN1 (C40G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 61 +3 more	GPathogenic/Likely pathogenic
Select item 4397	NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	CLRN1 (Y63*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 3A +5 more	GPathogenic
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 61 +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 4392	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 61 +5 more	GPathogenic/Likely pathogenic

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Items: 42