"GeneDx"[submitter] AND "RIPK1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 2274057	NM_001354930.2(RIPK1):c.580G>A (p.Ala194Thr)	RIPK1 (A194T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1313692	NM_001354930.2(RIPK1):c.1757A>T (p.His586Leu)	RIPK1 (H423L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806739	NM_001354930.2(RIPK1):c.1966T>C (p.Cys656Arg)	RIPK1 (C493R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic

ClinVar