54852[Gene ID] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic
Select item 2295581	NM_017705.4(PAQR5):c.8G>A (p.Ser3Asn)	PAQR5 (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208543	NM_017705.4(PAQR5):c.86G>A (p.Arg29His)	PAQR5 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208540	NM_017705.4(PAQR5):c.154A>T (p.Ile52Phe)	PAQR5 (I52F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623541	NM_017705.4(PAQR5):c.224T>C (p.Ile75Thr)	PAQR5 (I75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467230	NM_017705.4(PAQR5):c.237C>A (p.Ser79Arg)	PAQR5 (S79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239679	NM_017705.4(PAQR5):c.286C>T (p.Leu96Phe)	PAQR5 (L96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237150	NM_017705.4(PAQR5):c.302C>T (p.Ala101Val)	PAQR5 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208541	NM_017705.4(PAQR5):c.320T>C (p.Met107Thr)	PAQR5 (M107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229372	NM_017705.4(PAQR5):c.334C>T (p.Arg112Trp)	PAQR5 (R112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208542	NM_017705.4(PAQR5):c.367G>A (p.Val123Ile)	PAQR5 (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384753	NM_017705.4(PAQR5):c.443T>C (p.Phe148Ser)	PAQR5 (F148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324891	NM_017705.4(PAQR5):c.520G>A (p.Glu174Lys)	KIF23-AS1, PAQR5 (E174K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459289	NM_017705.4(PAQR5):c.605A>G (p.Tyr202Cys)	KIF23-AS1, PAQR5 (Y202C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2474972	NM_017705.4(PAQR5):c.610C>G (p.Leu204Val)	KIF23-AS1, PAQR5 (L204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157350	NM_001104554.1(PAQR5):c.88_39158dup	KIF23, KIF23-AS1 +3 more	Duplication	Large for gestational age	Gnot provided
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +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	ARPIN-AP3S2, COMMD4 +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	AAGAB, ABHD17C +523 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)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221500	GRCh37/hg19 15q23(chr15:69079813-72040847)x3	THAP10, THSD4 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 30