DTX4[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323868	NM_015177.2(DTX4):c.43G>A (p.Glu15Lys)	DTX4, LOC121392917 (E15K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390005	NM_015177.2(DTX4):c.68G>A (p.Ser23Asn)	DTX4 (S23N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086135	NM_015177.2(DTX4):c.100G>A (p.Val34Ile)	DTX4 (V34I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273983	NM_015177.2(DTX4):c.113C>T (p.Pro38Leu)	DTX4, LOC130005742 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086137	NM_015177.2(DTX4):c.154C>G (p.Arg52Gly)	DTX4 (R52G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622965	NM_015177.2(DTX4):c.208A>T (p.Thr70Ser)	DTX4 (T70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086139	NM_015177.2(DTX4):c.209C>G (p.Thr70Arg)	DTX4 (T70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086140	NM_015177.2(DTX4):c.233G>C (p.Arg78Pro)	DTX4 (R78P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2232171	NM_015177.2(DTX4):c.238T>C (p.Tyr80His)	DTX4 (Y80H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086141	NM_015177.2(DTX4):c.254C>T (p.Ser85Leu)	DTX4 (S85L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2537086	NM_015177.2(DTX4):c.295A>C (p.Asn99His)	DTX4 (N99H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2328762	NM_015177.2(DTX4):c.302C>G (p.Ser101Cys)	DTX4 (S101C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086142	NM_015177.2(DTX4):c.308C>T (p.Thr103Met)	DTX4 (T103M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086143	NM_015177.2(DTX4):c.434G>A (p.Arg145His)	DTX4 (R145H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276245	NM_015177.2(DTX4):c.454C>T (p.Arg152Cys)	DTX4 (R46C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273985	NM_015177.2(DTX4):c.460C>T (p.Arg154Cys)	DTX4 (R48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595378	NM_015177.2(DTX4):c.463C>T (p.Arg155Trp)	DTX4 (R155W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207270	NM_015177.2(DTX4):c.464G>A (p.Arg155Gln)	DTX4 (R155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086145	NM_015177.2(DTX4):c.478A>G (p.Ile160Val)	DTX4 (I54V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528837	NM_015177.2(DTX4):c.511G>A (p.Ala171Thr)	DTX4 (A171T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548694	NM_015177.2(DTX4):c.580T>C (p.Cys194Arg)	DTX4 (C194R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395470	NM_015177.2(DTX4):c.594G>A (p.Met198Ile)	DTX4 (M198I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477970	NM_015177.2(DTX4):c.697C>T (p.Pro233Ser)	DTX4 (P233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086146	NM_015177.2(DTX4):c.719T>C (p.Leu240Pro)	DTX4 (L134P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716947	NM_015177.2(DTX4):c.770T>G (p.Val257Gly)	DTX4 (V151G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787910	NM_015177.2(DTX4):c.852C>T (p.Thr284=)	DTX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3086147	NM_015177.2(DTX4):c.853G>A (p.Gly285Arg)	DTX4 (G285R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250867	NM_015177.2(DTX4):c.862G>C (p.Ala288Pro)	DTX4 (A182P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543002	NM_015177.2(DTX4):c.887A>C (p.Asn296Thr)	DTX4 (N296T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690327	NM_015177.2(DTX4):c.974G>A (p.Ser325Asn)	DTX4 (S219N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716948	NM_015177.2(DTX4):c.1026G>A (p.Ala342=)	DTX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2486923	NM_015177.2(DTX4):c.1057A>C (p.Lys353Gln)	DTX4 (K247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713492	NM_015177.2(DTX4):c.1065C>T (p.Val355=)	DTX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2615678	NM_015177.2(DTX4):c.1174G>C (p.Glu392Gln)	DTX4 (E392Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086136	NM_015177.2(DTX4):c.1458C>A (p.His486Gln)	DTX4 (H380Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273984	NM_015177.2(DTX4):c.1472C>A (p.Ser491Tyr)	DTX4 (S385Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372235	NM_015177.2(DTX4):c.1573G>A (p.Ala525Thr)	DTX4 (A525T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288268	NM_015177.2(DTX4):c.1657C>T (p.Arg553Cys)	DTX4 (R553C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240146	NM_015177.2(DTX4):c.1699G>A (p.Glu567Lys)	DTX4 (E567K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086138	NM_015177.2(DTX4):c.1711G>A (p.Val571Ile)	DTX4 (V571I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602719	NM_015177.2(DTX4):c.1838G>A (p.Ser613Asn)	DTX4 (S507N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980952	GRCh37/hg19 11q12.1(chr11:58602498-59091934)x3	DTX4, FAM111A +4 more	Copy number gain	not provided	GUncertain significance
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
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

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Items: 52