PSMD6[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 150515	GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1	ATXN7, C3orf49 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2559710	NM_014814.3(PSMD6):c.1075C>A (p.Pro359Thr)	PSMD6, PSMD6-AS2 (P321T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374128	NM_014814.3(PSMD6):c.1021G>A (p.Gly341Arg)	PSMD6, PSMD6-AS2 (G303R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498933	NM_014814.3(PSMD6):c.877C>T (p.Arg293Ter)	PSMD6, PSMD6-AS1 (R254* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2619788	NM_014814.3(PSMD6):c.799C>T (p.Arg267Cys)	PSMD6 (R229C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311006	NM_014814.3(PSMD6):c.746T>C (p.Val249Ala)	PSMD6 (V211A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311010	NM_014814.3(PSMD6):c.731C>T (p.Ala244Val)	PSMD6 (A244V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220459	NM_014814.3(PSMD6):c.712G>A (p.Glu238Lys)	PSMD6 (E291K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280733	NM_014814.3(PSMD6):c.696A>C (p.Glu232Asp)	PSMD6 (E194D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311009	NM_014814.3(PSMD6):c.662C>G (p.Thr221Ser)	PSMD6 (T182S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311004	NM_014814.3(PSMD6):c.584A>G (p.Lys195Arg)	PSMD6 (K157R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489657	NM_014814.3(PSMD6):c.535C>T (p.Arg179Cys)	PSMD6 (R140C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410412	NM_014814.3(PSMD6):c.445T>G (p.Leu149Val)	PSMD6 (L149V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220458	NM_014814.3(PSMD6):c.310A>G (p.Met104Val)	PSMD6 (M104V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311008	NM_014814.3(PSMD6):c.262C>G (p.Leu88Val)	PSMD6 (L49V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220457	NM_014814.3(PSMD6):c.214A>G (p.Lys72Glu)	PSMD6 (K34E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 930281	NM_014814.3(PSMD6):c.146-278_146-277insAAGA	PSMD6 (N49fs)	Insertion (frameshift variant +1 more)	See cases	GUncertain significance
Select item 2516419	NM_014814.3(PSMD6):c.133G>A (p.Val45Ile)	PSMD6 (V45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311005	NM_014814.3(PSMD6):c.118G>A (p.Glu40Lys)	PSMD6 (E40K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220460	NM_014814.3(PSMD6):c.91C>A (p.His31Asn)	PSMD6 (H31N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536770	NM_014814.3(PSMD6):c.89A>C (p.Glu30Ala)	PSMD6 (E30A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 814449	GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1	SYNPR, ATXN7 +11 more	Copy number loss	not provided	GPathogenic
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 31