PSMA4[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	ACSBG1, ADAMTS7 +175 more	Copy number loss	See cases	GPathogenic
Select item 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 2302401	NM_002789.6(PSMA4):c.278T>G (p.Ile93Ser)	PSMA4 (I22S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778997	NM_002789.6(PSMA4):c.339G>A (p.Ala113=)	PSMA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2320846	NM_002789.6(PSMA4):c.503G>A (p.Ser168Asn)	PSMA4 (S137N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490495	NM_002789.6(PSMA4):c.574T>G (p.Leu192Val)	PSMA4 (L121V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220347	NM_002789.6(PSMA4):c.698T>C (p.Val233Ala)	PSMA4 (V233A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519757	NM_002789.6(PSMA4):c.715A>C (p.Lys239Gln)	PSMA4 (K168Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297720	NM_002789.6(PSMA4):c.724G>A (p.Glu242Lys)	PSMA4 (E242K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 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 253955	GRCh37/hg19 15q25.1(chr15:78819698-79064139)x3	HYKK, CHRNA3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 27