Related gene-specific medical variations for Gene (Select 57589) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314266	NM_020829.4(RIC1):c.2277G>T (p.Lys759Asn)	LOC126860568, RIC1 (K722N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154171	NM_020829.4(RIC1):c.2341G>C (p.Val781Leu)	LOC126860568, RIC1 (V744L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154170	NM_020829.4(RIC1):c.2075G>A (p.Arg692Gln)	LOC126860568, RIC1 (R655Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659053	NM_020829.4(RIC1):c.2304C>T (p.Ile768=)	LOC126860568, RIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623996	NM_020829.4(RIC1):c.2424A>C (p.Arg808Ser)	LOC126860568, RIC1 (R808S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546391	NM_020829.4(RIC1):c.71A>T (p.His24Leu)	LOC130001516, RIC1 (H24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493881	NM_020829.4(RIC1):c.2068C>A (p.Gln690Lys)	LOC126860568, RIC1 (Q653K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435434	NM_020829.4(RIC1):c.2475G>T (p.Gln825His)	LOC126860568, RIC1 (Q788H +1 more)	Single nucleotide variant (missense variant)	Catifa syndrome	GUncertain significance
Select item 2336186	NM_020829.4(RIC1):c.2272C>T (p.Arg758Cys)	LOC126860568, RIC1 (R721C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275923	NM_020829.4(RIC1):c.2073C>G (p.Ile691Met)	LOC126860568, RIC1 (I654M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708158	NM_020829.4(RIC1):c.2333C>T (p.Pro778Leu)	LOC126860568, RIC1 (P741L +1 more)	Single nucleotide variant (missense variant)	Catifa syndrome	GLikely pathogenic
Select item 1326282	NM_020829.4(RIC1):c.2047C>T (p.Gln683Ter)	LOC126860568, RIC1 (Q646* +1 more)	Single nucleotide variant (nonsense)	Seizure	GUncertain significance
Select item 1300070	NM_020829.4(RIC1):c.1993-8A>C	LOC126860568, RIC1	Single nucleotide variant (intron variant)	Catifa syndrome +1 more	GBenign