"GeneDx"[submitter] AND "RSRC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 2469801	NM_001271838.2(RSRC1):c.172C>T (p.Arg58Cys)	RSRC1 (R58C)	Single nucleotide variant (missense variant)	not provided +1 more	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 2578110	NM_001271838.2(RSRC1):c.344G>A (p.Arg115His)	RSRC1 (R115H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365091	NM_001271838.2(RSRC1):c.541G>A (p.Glu181Lys)	RSRC1 (E123K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579470	NM_001271838.2(RSRC1):c.652+1G>A	RSRC1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

ClinVar