DHRS7[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 2249001	NM_016029.4(DHRS7):c.812G>A (p.Arg271Gln)	DHRS7 (R271Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082111	NM_016029.4(DHRS7):c.811C>T (p.Arg271Trp)	DHRS7 (R131W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339037	NM_016029.4(DHRS7):c.803G>A (p.Arg268His)	DHRS7 (R188H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082110	NM_016029.4(DHRS7):c.769A>G (p.Asn257Asp)	DHRS7 (N117D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402866	NM_016029.4(DHRS7):c.746A>C (p.Glu249Ala)	DHRS7 (E109A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351749	NM_016029.4(DHRS7):c.737T>C (p.Leu246Pro)	DHRS7 (L106P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082107	NM_016029.4(DHRS7):c.733T>C (p.Ser245Pro)	DHRS7 (S245P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516207	NM_016029.4(DHRS7):c.649C>T (p.Leu217Phe)	DHRS7 (L167F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531440	NM_016029.4(DHRS7):c.642T>A (p.Phe214Leu)	DHRS7 (F164L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082106	NM_016029.4(DHRS7):c.632G>A (p.Arg211Gln)	DHRS7 (R211Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386442	NM_016029.4(DHRS7):c.631C>T (p.Arg211Trp)	DHRS7 (R161W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372122	NM_016029.4(DHRS7):c.535G>A (p.Glu179Lys)	DHRS7 (E129K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283278	NM_016029.4(DHRS7):c.502T>A (p.Ser168Thr)	DHRS7 (S168T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315367	NM_016029.4(DHRS7):c.497C>T (p.Thr166Met)	DHRS7 (T166M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082105	NM_016029.4(DHRS7):c.371C>T (p.Ala124Val)	DHRS7 (A74V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250027	NM_016029.4(DHRS7):c.356A>G (p.Glu119Gly)	DHRS7 (E119G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615448	NM_016029.4(DHRS7):c.331G>A (p.Asp111Asn)	DHRS7 (D61N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082103	NM_016029.4(DHRS7):c.326C>T (p.Pro109Leu)	DHRS7 (P59L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283332	NM_016029.4(DHRS7):c.193G>C (p.Glu65Gln)	DHRS7 (E15Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082102	NM_016029.4(DHRS7):c.176C>T (p.Ser59Leu)	DHRS7 (S59L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082101	NM_016029.4(DHRS7):c.152T>C (p.Met51Thr)	DHRS7 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082100	NM_016029.4(DHRS7):c.131C>T (p.Pro44Leu)	DHRS7 (P44L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
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 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980493	GRCh37/hg19 14q23.1(chr14:60574538-60635500)x1	DHRS7, PCNX4	Copy number loss	not provided	GLikely benign
Select item 815665	GRCh37/hg19 14q23.1(chr14:60327446-60622477)x3	DHRS7, RTN1 +1 more	Copy number gain	not provided	GLikely benign
Select item 564129	GRCh37/hg19 14q23.1(chr14:60011801-61106182)x3	CCDC175, PCNX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564096	GRCh37/hg19 14q23.1(chr14:60519819-60644989)x3	DHRS7, PCNX4	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 41