CYP20A1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
Select item 2301170	NM_177538.3(CYP20A1):c.71C>A (p.Pro24Gln)	CYP20A1 (P24Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237563	NM_177538.3(CYP20A1):c.119A>C (p.Glu40Ala)	CYP20A1 (E40A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2490931	NM_177538.3(CYP20A1):c.168G>T (p.Glu56Asp)	CYP20A1 (E56D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2558988	NM_177538.3(CYP20A1):c.173T>A (p.Leu58Gln)	CYP20A1 (L58Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3079396	NM_177538.3(CYP20A1):c.183G>T (p.Leu61Phe)	CYP20A1 (L61F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2315100	NM_177538.3(CYP20A1):c.193T>G (p.Tyr65Asp)	CYP20A1 (Y65D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3079397	NM_177538.3(CYP20A1):c.200C>T (p.Pro67Leu)	CYP20A1 (P67L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2380062	NM_177538.3(CYP20A1):c.226C>T (p.Arg76Cys)	CYP20A1 (R76C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2234996	NM_177538.3(CYP20A1):c.275A>G (p.Asn92Ser)	CYP20A1 (N92S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2231681	NM_177538.3(CYP20A1):c.364A>G (p.Met122Val)	CYP20A1 (M20V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2295107	NM_177538.3(CYP20A1):c.550A>C (p.Thr184Pro)	CYP20A1 (T17P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488577	NM_177538.3(CYP20A1):c.623G>C (p.Gly208Ala)	CYP20A1 (G208A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079398	NM_177538.3(CYP20A1):c.658C>T (p.Arg220Trp)	CYP20A1 (R220W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317702	NM_177538.3(CYP20A1):c.736A>G (p.Asn246Asp)	CYP20A1 (N144D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404810	NM_177538.3(CYP20A1):c.749A>G (p.His250Arg)	CYP20A1 (H250R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270506	NM_177538.3(CYP20A1):c.789C>A (p.Asp263Glu)	CYP20A1 (D263E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079399	NM_177538.3(CYP20A1):c.838A>G (p.Ile280Val)	CYP20A1 (I280V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269463	NM_177538.3(CYP20A1):c.926T>C (p.Val309Ala)	CYP20A1 (V317A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270509	NM_177538.3(CYP20A1):c.968T>C (p.Leu323Pro)	CYP20A1 (L331P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270508	NM_177538.3(CYP20A1):c.998C>G (p.Thr333Ser)	CYP20A1 (T105S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207992	NM_177538.3(CYP20A1):c.1042G>A (p.Asp348Asn)	CYP20A1 (D246N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783349	NM_177538.3(CYP20A1):c.1059T>G (p.Ile353Met)	CYP20A1 (I186M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3270505	NM_177538.3(CYP20A1):c.1093C>T (p.Leu365Phe)	CYP20A1 (L137F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599874	NM_177538.3(CYP20A1):c.1105G>T (p.Gly369Cys)	CYP20A1 (G377C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399264	NM_177538.3(CYP20A1):c.1106G>A (p.Gly369Asp)	CYP20A1 (G377D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789157	NM_177538.3(CYP20A1):c.1174G>A (p.Glu392Lys)	CYP20A1 (E392K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2511430	NM_177538.3(CYP20A1):c.1216A>T (p.Thr406Ser)	CYP20A1 (T178S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218383	NM_177538.3(CYP20A1):c.1268T>A (p.Leu423His)	CYP20A1 (L431H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079394	NM_177538.3(CYP20A1):c.1310G>A (p.Gly437Glu)	CYP20A1 (G209E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270507	NM_177538.3(CYP20A1):c.1315G>A (p.Val439Ile)	CYP20A1 (V211I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616849	NM_177538.3(CYP20A1):c.1364G>C (p.Trp455Ser)	CYP20A1 (W227S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	ABI2, ALS2 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +2 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 187825	GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1	ABI2, NBEAL1 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 61