PSMA1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 716419	NM_002786.4(PSMA1):c.687G>A (p.Val229=)	PSMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2485952	NM_002786.4(PSMA1):c.671A>G (p.Tyr224Cys)	PSMA1 (Y230C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527696	NM_002786.4(PSMA1):c.498A>T (p.Gln166His)	PSMA1 (Q172H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559707	NM_002786.4(PSMA1):c.481A>G (p.Ile161Val)	PSMA1 (I167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561037	NM_002786.4(PSMA1):c.298G>A (p.Asp100Asn)	PSMA1 (D106N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620564	NM_002786.4(PSMA1):c.266G>T (p.Arg89Leu)	PSMA1 (R95L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245821	NM_002786.4(PSMA1):c.208A>G (p.Ile70Val)	PSMA1 (I70V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331513	NM_002786.4(PSMA1):c.7C>T (p.Arg3Ter)	PSMA1 (R3* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 784186	NM_002786.4(PSMA1):c.4-7_4-2del	PSMA1	Microsatellite (splice acceptor variant)	not provided	GLikely benign
Select item 152382	GRCh38/hg38 11p15.2(chr11:14594998-14806982)x1	LOC130005370, PDE3B +1 more	Copy number loss	See cases	GUncertain significance
Select item 146351	GRCh38/hg38 11p15.2(chr11:14619894-15179026)x3	CALCA, CALCB +14 more	Copy number gain	See cases	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	ABCC8, ANO3 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 689164	GRCh37/hg19 11p15.2(chr11:14513629-14816556)x3	COPB1, PDE3B +1 more	Copy number gain	not provided	GUncertain significance
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	SPON1, PTH +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563837	GRCh37/hg19 11p15.2(chr11:14656170-14938525)x1	CYP2R1, PDE3B +1 more	Copy number loss	not provided	GUncertain significance
Select item 442407	GRCh37/hg19 11p15.2(chr11:14460052-15556068)x3	CALCA, CALCB +5 more	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic
Select item 369983	GRCh37/hg19 11p15.2(chr11:14657389-14918308)x1	PDE3B, PSMA1 +1 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 369982	GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1	COPB1, CYP2R1 +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic

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Items: 30