RPLP1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 2230239	NM_001003.3(RPLP1):c.158A>G (p.Asn53Ser)	RPLP1 (N28S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274231	NM_001003.3(RPLP1):c.159C>A (p.Asn53Lys)	RPLP1 (N28K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315427	NM_001003.3(RPLP1):c.160G>A (p.Val54Ile)	RPLP1 (V54I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315226	NM_001003.3(RPLP1):c.196G>C (p.Gly66Arg)	RPLP1 (G41R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156122	NM_001003.3(RPLP1):c.196G>A (p.Gly66Ser)	RPLP1 (G41S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602739	NM_001003.3(RPLP1):c.248C>T (p.Ser83Phe)	RPLP1 (S58F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156123	NM_001003.3(RPLP1):c.262C>T (p.Pro88Ser)	RPLP1 (P88S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621503	NM_001003.3(RPLP1):c.316G>A (p.Asp106Asn)	RPLP1 (D106N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1809384	GRCh37/hg19 15q23(chr15:68807665-70981473)x3	ANP32A, CORO2B +8 more	Copy number gain	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815733	GRCh37/hg19 15q23(chr15:69681832-69906547)x1	RPLP1, PAQR5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 221500	GRCh37/hg19 15q23(chr15:69079813-72040847)x3	ANP32A, CT62 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 23