C3280041[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 4392	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3 +5 more	GPathogenic/Likely pathogenic
Select item 188875	NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	CLRN1 (I92fs +2 more)	Duplication (frameshift variant +2 more)	Usher syndrome type 3 +7 more	GPathogenic/Likely pathogenic
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 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 504559	NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)	CLRN1 (Q73R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3 +5 more	GUncertain significance
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 1275768	NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs)	CLRN1 (S50fs)	Insertion (frameshift variant +1 more)	not provided +4 more	GPathogenic
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 3 +6 more	GPathogenic/Likely pathogenic