PSMD14-DT[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 154464	GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1	ITGB6, LINC01806 +58 more	Copy number loss	See cases	GLikely pathogenic
Select item 727233	NM_001199135.3(TANK):c.337C>G (p.Gln113Glu)	PSMD14-DT, TANK (Q113E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2529726	NM_001199135.3(TANK):c.545A>C (p.Gln182Pro)	PSMD14-DT, TANK (Q182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306522	NM_001199135.3(TANK):c.567A>T (p.Lys189Asn)	PSMD14-DT, TANK (K189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711347	NM_001199135.3(TANK):c.594T>C (p.Ala198=)	PSMD14-DT, TANK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219067	NM_001199135.3(TANK):c.611G>C (p.Arg204Thr)	PSMD14-DT, TANK (R204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173774	NM_001199135.3(TANK):c.671C>T (p.Thr224Ile)	PSMD14-DT, TANK (T224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494177	NM_001199135.3(TANK):c.700G>T (p.Val234Phe)	PSMD14-DT, TANK (V234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307354	NM_001199135.3(TANK):c.717G>A (p.Met239Ile)	PSMD14-DT, TANK (M239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392880	NM_001199135.3(TANK):c.728C>T (p.Ser243Leu)	PSMD14-DT, TANK (S243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324617	NM_001199135.3(TANK):c.746C>T (p.Thr249Ile)	PSMD14-DT, TANK (T249I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455414	NM_001199135.3(TANK):c.818T>C (p.Phe273Ser)	PSMD14-DT, TANK (F273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295913	NM_001199135.3(TANK):c.865G>A (p.Glu289Lys)	PSMD14-DT, TANK (E289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377316	NM_001199135.3(TANK):c.882C>A (p.Asp294Glu)	PSMD14-DT, TANK (D294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386514	NM_001199135.3(TANK):c.898A>G (p.Ile300Val)	PSMD14-DT, TANK (I300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234172	NM_001199135.3(TANK):c.906C>G (p.Asn302Lys)	PSMD14-DT, TANK (N302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516931	NM_001199135.3(TANK):c.914C>A (p.Thr305Lys)	PSMD14-DT, TANK (T305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251163	NM_001199135.3(TANK):c.920A>G (p.Asp307Gly)	PSMD14-DT, TANK (D307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300412	NM_001199135.3(TANK):c.956T>G (p.Ile319Ser)	PSMD14-DT, TANK (I319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469835	NM_001199135.3(TANK):c.980C>T (p.Ala327Val)	PSMD14-DT, TANK (A327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173770	NM_001199135.3(TANK):c.1018A>C (p.Asn340His)	PSMD14-DT, TANK (N340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775768	NM_001199135.3(TANK):c.1073C>T (p.Pro358Leu)	PSMD14-DT, TANK (P358L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775769	NM_001199135.3(TANK):c.1101+6T>C	PSMD14-DT, TANK	Single nucleotide variant	not provided	GBenign
Select item 2234171	NM_001199135.3(TANK):c.1138T>C (p.Ser380Pro)	PSMD14-DT, TANK (S380P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28