Related gene-specific medical variations for Gene (Select 51319) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362576	NM_001271838.2(RSRC1):c.230_231delinsAA (p.Gly77Glu)	RSRC1 (G77E)	Indel (missense variant)	Intellectual developmental disorder, autosomal recessive 70	GUncertain significance
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 1801445	NM_001271838.2(RSRC1):c.652+16796_652+16797insCTCTTTATATAGTCTATATCTATAATTACTATACTATATT	RSRC1	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 687669	GRCh37/hg19 3q25.32(chr3:158209613-158255406)x1	RSRC1	Copy number loss	not provided	GUncertain significance
Select item 687668	GRCh37/hg19 3q25.32(chr3:158209613-158255406)x1	RSRC1	Copy number loss	not provided	GUncertain significance
Select item 562832	GRCh37/hg19 3q25.32(chr3:158064908-158180957)x1	RSRC1	Copy number loss	not provided	GUncertain significance
Select item 562830	GRCh37/hg19 3q25.32(chr3:157947560-158006050)x1	RSRC1	Copy number loss	not provided	GLikely benign
Select item 394381	GRCh37/hg19 3q25.32(chr3:158006083-158183313)x3	RSRC1	Copy number gain	See cases	GLikely benign

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