ClinVar for Gene (Select 112487) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273943	NM_080664.3(DTD2):c.37C>T (p.Leu13Phe)	DTD2 (L13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3086053	NM_080664.3(DTD2):c.445G>A (p.Gly149Arg)	DTD2, HEATR5A-DT (G149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684720	GRCh37/hg19 14q12(chr14:31841456-32165895)x3	DTD2, GPR33 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684718	GRCh37/hg19 14q12(chr14:31796875-32027900)x3	DTD2, GPR33 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2367860	NM_080664.3(DTD2):c.443A>G (p.Tyr148Cys)	DTD2, HEATR5A-DT (Y148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980479	GRCh37/hg19 14q12(chr14:31822348-32145517)x3	DTD2, HEATR5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 929501	NUBPL, 240-KB DEL AND 130-KB DUP	NUBPL, DTD2 +2 more	Complex	Parkinson disease, late-onset	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 689045	GRCh37/hg19 14q12(chr14:31873358-32123957)x1	DTD2, GPR33 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688414	GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1	AKAP6, AP4S1 +14 more	Copy number loss	not provided	GPathogenic
Select item 685691	GRCh37/hg19 14q12(chr14:31881150-32123495)x3	DTD2, GPR33 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564104	GRCh37/hg19 14q12(chr14:31784406-32027900)x3	DTD2, HEATR5A +1 more	Copy number gain	not provided	GLikely benign
Select item 560123	Single allele	ARHGAP5-AS1, DTD2 +35 more	Deletion	Mitochondrial complex I deficiency	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 394065	GRCh37/hg19 14q12(chr14:31916124-32101969)x1	DTD2, GPR33 +1 more	Copy number loss	See cases	GUncertain significance
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 153681	GRCh38/hg38 14q12(chr14:31404152-31654707)x1	DTD2, GPR33 +10 more	Copy number loss	See cases	GUncertain significance
Select item 152033	GRCh38/hg38 14q12(chr14:31402452-31648460)x1	DTD2, GPR33 +9 more	Copy number loss	See cases	GUncertain significance
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 37