Related gene-specific medical variations for Gene (Select 1646) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065936	NM_001393392.1(AKR1C2):c.158_159del (p.His53fs)	AKR1C2 (H53fs)	Deletion (frameshift variant)	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	GUncertain significance
Select item 2690870	NM_001393392.1(AKR1C2):c.827_828del (p.Arg276fs)	AKR1C2 (R250fs +1 more)	Microsatellite (frameshift variant)	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	GUncertain significance
Select item 2520422	NM_001393392.1(AKR1C2):c.533A>C (p.Asn178Thr)	AKR1C2, LOC101928051 (N152T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220959	NM_001393392.1(AKR1C2):c.569A>C (p.Gln190Pro)	AKR1C2, LOC101928051 (Q164P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287223	NM_001393392.1(AKR1C2):c.571-48A>G	AKR1C2, LOC101928051	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262097	NM_001393392.1(AKR1C2):c.680+35T>C	AKR1C2, LOC101928051	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252271	NM_001393392.1(AKR1C2):c.680+34C>G	AKR1C2, LOC101928051	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230373	NM_001393392.1(AKR1C2):c.571-92C>G	AKR1C2, LOC101928051	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196539	NM_001393392.1(AKR1C2):c.571-122G>A	AKR1C2, LOC101928051	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 805966	NM_001393392.1(AKR1C2):c.666T>C (p.His222=)	AKR1C2, LOC101928051	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 394669	GRCh37/hg19 10p15.1(chr10:5025476-5049453)x1	AKR1C2	Copy number loss	See cases	GLikely benign
Select item 394668	GRCh37/hg19 10p15.1(chr10:5025476-5049453)x3	AKR1C2	Copy number gain	See cases	GBenign/Likely benign
Select item 30067	NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln)	AKR1C2, LOC101928051 (H222Q +1 more)	Single nucleotide variant (missense variant)	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	GPathogenic