9530[HGNC] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +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 3310949	NM_002786.4(PSMA1):c.220A>G (p.Ile74Val)	PSMA1 (I80V +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	PSMA1, LOC130005370 +1 more	Copy number loss	See cases	GUncertain significance
Select item 146351	GRCh38/hg38 11p15.2(chr11:14619894-15179026)x3	LOC130005370, LOC130005371 +14 more	Copy number gain	See cases	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 689164	GRCh37/hg19 11p15.2(chr11:14513629-14816556)x3	PDE3B, PSMA1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	PTH, RRAS2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +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	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 369983	GRCh37/hg19 11p15.2(chr11:14657389-14918308)x1	CYP2R1, PDE3B +1 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 369982	GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1	CYP2R1, PDE3B +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic

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: 31