AKR1C2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 149208	GRCh38/hg38 10p15.1(chr10:4836712-5161722)x1	AKR1C1, AKR1C2 +12 more	Copy number loss	See cases	GLikely benign
Select item 148178	GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3	AKR1C1, AKR1C2 +52 more	Copy number gain	See cases	GUncertain significance
Select item 154105	GRCh38/hg38 10p15.1(chr10:4892139-5164086)x1	AKR1C1, AKR1C2 +9 more	Copy number loss	See cases	GLikely benign
Select item 1277269	NM_001393392.1(AKR1C2):c.*311G>A	AKR1C2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1250861	NM_001393392.1(AKR1C2):c.*297C>A	AKR1C2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1270279	NM_001393392.1(AKR1C2):c.*173G>A	AKR1C2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1229377	NM_001393392.1(AKR1C2):c.930-10dup	AKR1C2	Duplication (intron variant)	not provided	GBenign
Select item 1293763	NM_001393392.1(AKR1C2):c.930-54G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262116	NM_001393392.1(AKR1C2):c.930-56G>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253500	NM_001393392.1(AKR1C2):c.930-204G>T	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283504	NM_001393392.1(AKR1C2):c.929+186G>T	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183519	NM_001393392.1(AKR1C2):c.929+185T>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224027	NM_001393392.1(AKR1C2):c.929+7A>G	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30066	NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr)	AKR1C2 (N300T +1 more)	Single nucleotide variant (missense variant)	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	GPathogenic
Select item 1241271	NM_001393392.1(AKR1C2):c.847-51T>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231590	NM_001393392.1(AKR1C2):c.847-112G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234466	NM_001393392.1(AKR1C2):c.847-277A>G	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259007	NM_001393392.1(AKR1C2):c.846+251A>G	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247763	NM_001393392.1(AKR1C2):c.846+76del	AKR1C2	Deletion (intron variant)	not provided	GBenign
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 3107810	NM_001393392.1(AKR1C2):c.826C>T (p.Arg276Cys)	AKR1C2 (R276C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469477	NM_001393392.1(AKR1C2):c.787C>T (p.Arg263Cys)	AKR1C2 (R263C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056884	NM_001393392.1(AKR1C2):c.783G>A (p.Leu261=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign
Select item 3107797	NM_001393392.1(AKR1C2):c.773G>A (p.Arg258His)	AKR1C2 (R232H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042249	NM_001393392.1(AKR1C2):c.772C>T (p.Arg258Cys)	AKR1C2 (R232C +1 more)	Single nucleotide variant (missense variant)	AKR1C2-related disorder	GBenign
Select item 2350559	NM_001393392.1(AKR1C2):c.764T>G (p.Ile255Ser)	AKR1C2 (I229S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031291	NM_001393392.1(AKR1C2):c.720C>A (p.Val240=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign
Select item 1237642	NM_001393392.1(AKR1C2):c.681-39C>G	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293758	NM_001393392.1(AKR1C2):c.681-42T>C	AKR1C2	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 805966	NM_001393392.1(AKR1C2):c.666T>C (p.His222=)	AKR1C2, LOC101928051	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder +1 more	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
Select item 1287223	NM_001393392.1(AKR1C2):c.571-48A>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 1249287	NM_001393392.1(AKR1C2):c.570+299C>T	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241393	NM_001393392.1(AKR1C2):c.570+180G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280321	NM_001393392.1(AKR1C2):c.570+145T>G	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238521	NM_001393392.1(AKR1C2):c.570+80T>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2220959	NM_001393392.1(AKR1C2):c.569A>C (p.Gln190Pro)	AKR1C2 (Q164P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107773	NM_001393392.1(AKR1C2):c.539C>T (p.Pro180Leu)	AKR1C2 (P154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520422	NM_001393392.1(AKR1C2):c.533A>C (p.Asn178Thr)	AKR1C2 (N152T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037188	NM_001393392.1(AKR1C2):c.501C>T (p.Asn167=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign
Select item 3107764	NM_001393392.1(AKR1C2):c.449C>T (p.Ala150Val)	AKR1C2 (A124V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1224719	NM_001393392.1(AKR1C2):c.448-94G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247769	NM_001393392.1(AKR1C2):c.447+96G>T	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270221	NM_001393392.1(AKR1C2):c.447+17G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 434114	NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=)	AKR1C2	Single nucleotide variant (synonymous variant +1 more)	AKR1C2-related disorder +3 more	GBenign
Select item 1343416	NM_001393392.1(AKR1C2):c.413T>A (p.Leu138Gln)	AKR1C2 (L138Q)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3033417	NM_001393392.1(AKR1C2):c.384G>T (p.Val128=)	AKR1C2	Single nucleotide variant (synonymous variant +1 more)	AKR1C2-related disorder	GLikely benign
Select item 1235469	NM_001393392.1(AKR1C2):c.370-103del	AKR1C2	Deletion (intron variant)	not provided	GBenign
Select item 1243636	NM_001393392.1(AKR1C2):c.370-108G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230354	NM_001393392.1(AKR1C2):c.370-125C>T	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226693	NM_001393392.1(AKR1C2):c.370-189T>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267522	NM_001393392.1(AKR1C2):c.370-211T>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293769	NM_001393392.1(AKR1C2):c.369+448A>G	AKR1C2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1232019	NM_001393392.1(AKR1C2):c.369+426T>A	AKR1C2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1231741	NM_001393392.1(AKR1C2):c.369+422T>C	AKR1C2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1266589	NM_001393392.1(AKR1C2):c.369+78G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1337043	NM_001393392.1(AKR1C2):c.364G>A (p.Val122Ile)	AKR1C2 (V122I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1181756	NM_001393392.1(AKR1C2):c.327C>T (p.Asp109=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder +1 more	GBenign
Select item 2257130	NM_001393392.1(AKR1C2):c.315T>A (p.Asn105Lys)	AKR1C2 (N105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334669	NM_001393392.1(AKR1C2):c.292G>A (p.Ala98Thr)	AKR1C2 (A98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107757	NM_001393392.1(AKR1C2):c.290C>T (p.Pro97Leu)	AKR1C2 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107754	NM_001393392.1(AKR1C2):c.287G>A (p.Arg96Gln)	AKR1C2 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30065	NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)	AKR1C2 (H90Q)	Single nucleotide variant (missense variant)	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	GPathogenic
Select item 1258135	NM_001393392.1(AKR1C2):c.253-262G>A	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228465	NM_001393392.1(AKR1C2):c.252+202C>T	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30064	NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val)	AKR1C2 (I79V)	Single nucleotide variant (missense variant)	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	GPathogenic
Select item 1337156	NM_001393392.1(AKR1C2):c.211G>C (p.Asp71His)	AKR1C2 (D71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354812	NM_001393392.1(AKR1C2):c.180G>C (p.Gln60His)	AKR1C2 (Q60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3107749	NM_001393392.1(AKR1C2):c.155C>A (p.Ala52Glu)	AKR1C2 (A52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265013	NM_001393392.1(AKR1C2):c.142C>G (p.His48Asp)	AKR1C2 (H48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297289	NM_001393392.1(AKR1C2):c.137T>A (p.Phe46Tyr)	AKR1C2 (F46Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634909	NM_001393392.1(AKR1C2):c.85-1G>C	AKR1C2	Single nucleotide variant (splice acceptor variant)	AKR1C2-related disorder	GUncertain significance
Select item 1251148	NM_001393392.1(AKR1C2):c.85-160A>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242300	NM_001393392.1(AKR1C2):c.85-223T>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239073	NM_001393392.1(AKR1C2):c.84+244T>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282145	NM_001393392.1(AKR1C2):c.84+221A>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293776	NM_001393392.1(AKR1C2):c.84+140G>T	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248639	NM_001393392.1(AKR1C2):c.84+110A>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223993	NM_001393392.1(AKR1C2):c.84+82T>C	AKR1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3046339	NM_001393392.1(AKR1C2):c.54C>T (p.Val18=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign

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