20576[HGNC] - ClinVar

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

Search results

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61