ClinVar for MedGen (Select 1679317) - ClinVar - NCBI

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

Links from MedGen

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064117	NM_001271838.2(RSRC1):c.332del (p.Arg111fs)	RSRC1 (R111fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 70	GLikely pathogenic
Select item 1341492	NM_001271838.2(RSRC1):c.3G>T (p.Met1Ile)	RSRC1 (M1I)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic
Select item 1341491	NM_001271838.2(RSRC1):c.532-1G>A	RSRC1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic
Select item 1341490	NM_001271838.2(RSRC1):c.441_447dup (p.Glu150fs)	RSRC1 (E150fs)	Microsatellite (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic
Select item 1285536	NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln)	RSRC1 (R4Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 70	GUncertain significance
Select item 1030571	NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys)	RSRC1 (R66C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 70	GUncertain significance
Select item 626266	NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter)	RSRC1 (R69*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 626265	NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter)	RSRC1 (R90*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 70	GPathogenic