RPLP1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23