DEK[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 3081359	NM_003472.4(DEK):c.1067C>T (p.Thr356Ile)	DEK (T322I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210074	NM_003472.4(DEK):c.1033C>G (p.Gln345Glu)	DEK (Q311E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255942	NM_003472.4(DEK):c.1001C>A (p.Ala334Asp)	DEK (A300D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245170	NM_003472.4(DEK):c.896A>C (p.Lys299Thr)	DEK (K265T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081362	NM_003472.4(DEK):c.842A>G (p.Asn281Ser)	DEK (N247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271480	NM_003472.4(DEK):c.837T>A (p.Ser279Arg)	DEK (S279R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359280	NM_003472.4(DEK):c.707A>G (p.Glu236Gly)	DEK (E236G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510736	NM_003472.4(DEK):c.623G>A (p.Arg208Gln)	DEK (R208Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385808	NM_003472.4(DEK):c.526G>C (p.Val176Leu)	DEK (V176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081361	NM_003472.4(DEK):c.202A>G (p.Met68Val)	DEK (M68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338552	NM_003472.4(DEK):c.160G>A (p.Val54Met)	DEK (V54M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347721	NM_003472.4(DEK):c.142A>G (p.Lys48Glu)	DEK (K48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081360	NM_003472.4(DEK):c.120C>G (p.Asp40Glu)	DEK (D40E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081363	NM_003472.4(DEK):c.85A>G (p.Arg29Gly)	DEK (R29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612863	NM_003472.4(DEK):c.79G>A (p.Gly27Ser)	DEK (G27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246798	NM_003472.4(DEK):c.32A>G (p.Glu11Gly)	DEK (E11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492789	NM_003472.4(DEK):c.17C>T (p.Pro6Leu)	DEK (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081364	NM_003472.4(DEK):c.8C>T (p.Ala3Val)	DEK (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062930	GRCh37/hg19 6p22.3(chr6:18012026-18313034)x1	DEK, KDM1B +2 more	Copy number loss	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 979712	GRCh37/hg19 6p22.3(chr6:18184925-18351530)x1	DEK, KDM1B	Copy number loss	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253699	GRCh37/hg19 6p22.3(chr6:17637157-18931615)x3	TPMT, NHLRC1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic

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Items: 35