PSMD11[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 2306433	NM_002815.4(PSMD11):c.17T>C (p.Val6Ala)	PSMD11 (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308356	NM_002815.4(PSMD11):c.260G>A (p.Arg87His)	PSMD11 (R87H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287631	NM_002815.4(PSMD11):c.307A>G (p.Thr103Ala)	PSMD11 (T103A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359056	NM_002815.4(PSMD11):c.331T>A (p.Leu111Ile)	PSMD11 (L111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2921134	NM_002815.4(PSMD11):c.592A>G (p.Asn198Asp)	PSMD11 (N198D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2391330	NM_002815.4(PSMD11):c.646A>G (p.Ile216Val)	PSMD11 (I216V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254092	NM_002815.4(PSMD11):c.655G>A (p.Ala219Thr)	PSMD11 (A219T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218888	NM_002815.4(PSMD11):c.698A>G (p.Tyr233Cys)	PSMD11 (Y233C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552422	NM_002815.4(PSMD11):c.775A>C (p.Ile259Leu)	PSMD11 (I259L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599582	NM_002815.4(PSMD11):c.850-3_850del	PSMD11	Microsatellite	Short stature	GPathogenic
Select item 2596514	NM_002815.4(PSMD11):c.940C>T (p.Arg314Trp)	PSMD11 (R314W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560702	NM_002815.4(PSMD11):c.1246A>G (p.Asn416Asp)	PSMD11 (N416D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684843	GRCh37/hg19 17q11.2(chr17:30579124-30861865)x3	C17orf75, CDK5R1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	COPRS, LRRC37B +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564427	GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3	MYO1D, PSMD11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 26