ClinVar for MedGen (Select 1684686) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254649	NM_020829.4(RIC1):c.174_186delinsAGGC (p.Pro59_Ser62delinsGly)	RIC1	Indel (inframe_indel)	Catifa syndrome	GUncertain significance
Select item 2441904	NM_020829.4(RIC1):c.3764A>T (p.Lys1255Ile)	RIC1 (K1218I +1 more)	Single nucleotide variant (missense variant)	Catifa syndrome +1 more	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 1805104	NM_020829.4(RIC1):c.1367G>A (p.Arg456Gln)	RIC1 (R456Q)	Single nucleotide variant (missense variant)	Catifa syndrome	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 1300071	NM_020829.4(RIC1):c.4251T>G (p.Thr1417=)	RIC1	Single nucleotide variant (synonymous variant)	Catifa syndrome	GBenign
Select item 1300070	NM_020829.4(RIC1):c.1993-8A>C	LOC126860568, RIC1	Single nucleotide variant (intron variant)	Catifa syndrome	GBenign
Select item 1300069	NM_020829.4(RIC1):c.812+4T>C	RIC1	Single nucleotide variant (intron variant)	Catifa syndrome	GBenign
Select item 1300068	NM_020829.4(RIC1):c.441-10C>G	RIC1	Single nucleotide variant (intron variant)	Catifa syndrome	GBenign
Select item 810663	NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro)	RIC1 (R1265P +1 more)	Single nucleotide variant (missense variant)	Catifa syndrome	GConflicting classifications of pathogenicity