RPRML[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59307	GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3	ARL17A, FAM215B +16 more	Copy number gain	See cases	GUncertain significance
Select item 2554179	NM_203400.5(RPRML):c.344C>G (p.Ala115Gly)	LRRC37A2, RPRML (A115G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515207	NM_203400.5(RPRML):c.334G>C (p.Val112Leu)	LRRC37A2, RPRML (V112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262472	NM_203400.5(RPRML):c.55G>A (p.Gly19Ser)	LRRC37A2, RPRML (G19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395525	NM_203400.5(RPRML):c.38A>C (p.Glu13Ala)	LRRC37A2, RPRML (E13A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2331552	NM_203400.5(RPRML):c.31T>G (p.Leu11Val)	LRRC37A2, RPRML (L11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260728	NM_203400.5(RPRML):c.5A>T (p.Asn2Ile)	LRRC37A2, RPRML (N2I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	EFCAB13, GOSR2 +24 more	Copy number gain	PNPO-related disorders	GLikely pathogenic
Select item 1340901	GRCh37/hg19 17q21.32(chr17:45044413-45170820)x1	RPRML	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance