8109[HGNC] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 58365	GRCh38/hg38 2p25.1(chr2:10216979-10515005)x1	HPCAL1, LOC115804260 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3366234	NM_002539.3(ODC1):c.1386G>C (p.Ter462Tyr)	ODC1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3343253	NM_002539.3(ODC1):c.1373G>C (p.Ser458Thr)	ODC1 (S329T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3302171	NM_002539.3(ODC1):c.1345C>T (p.Arg449Cys)	ODC1 (R449C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 983289	NM_002539.3(ODC1):c.1342A>T (p.Lys448Ter)	ODC1 (K448* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with alopecia and brain abnormalities	GPathogenic
Select item 2650669	NM_002539.3(ODC1):c.1336G>A (p.Gly446Arg)	ODC1 (G317R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2505223	NM_002539.3(ODC1):c.1324G>A (p.Ala442Thr)	ODC1 (A313T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978044	NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs)	ODC1 (P309fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GLikely pathogenic
Select item 2582119	NM_002539.3(ODC1):c.1312C>T (p.Pro438Ser)	ODC1 (P309S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650670	NM_002539.3(ODC1):c.1281C>T (p.Pro427=)	ODC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342500	NM_002539.3(ODC1):c.1270G>A (p.Asp424Asn)	ODC1 (D295N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GUncertain significance
Select item 1280616	NM_002539.3(ODC1):c.1269C>T (p.Pro423=)	ODC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 983288	NC_000002.12:g.10440850_10440871del	ODC1	Deletion	Neurodevelopmental disorder with alopecia and brain abnormalities	GPathogenic
Select item 983287	NM_002539.3(ODC1):c.1255C>T (p.Gln419Ter)	ODC1 (Q419* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with alopecia and brain abnormalities	GPathogenic
Select item 3342607	NM_002539.3(ODC1):c.1252C>T (p.Gln418Ter)	ODC1 (Q289* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1074405	NM_002539.3(ODC1):c.1242-2A>G	ODC1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3302172	NM_002539.3(ODC1):c.1241+2T>G	ODC1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 983286	NM_002539.3(ODC1):c.1240_1241dup (p.Trp414fs)	ODC1 (W285fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GPathogenic
Select item 983285	NM_002539.3(ODC1):c.1241+1G>T	ODC1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GPathogenic
Select item 3204031	NM_002539.3(ODC1):c.1238C>T (p.Ala413Val)	ODC1 (A284V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704663	NM_002539.3(ODC1):c.1229C>T (p.Ser410Leu)	ODC1 (S281L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631606	NM_002539.3(ODC1):c.1217A>T (p.Tyr406Phe)	ODC1 (Y277F +1 more)	Single nucleotide variant (missense variant)	ODC1-related disorder	GUncertain significance
Select item 1319186	NM_002539.3(ODC1):c.1211C>T (p.Thr404Met)	ODC1 (T275M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696534	NM_002539.3(ODC1):c.1187C>T (p.Thr396Met)	ODC1 (T267M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GUncertain significance
Select item 1314870	NM_002539.3(ODC1):c.1162G>A (p.Ala388Thr)	ODC1 (A259T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650671	NM_002539.3(ODC1):c.1161C>T (p.Gly387=)	ODC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2259140	NM_002539.3(ODC1):c.1125G>A (p.Met375Ile)	ODC1 (M246I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025170	NM_002539.3(ODC1):c.1106G>A (p.Arg369His)	ODC1 (R240H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1879458	NM_002539.3(ODC1):c.1105C>T (p.Arg369Cys)	ODC1 (R240C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3370758	NM_002539.3(ODC1):c.1067G>A (p.Trp356Ter)	ODC1 (W227* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3341612	NM_002539.3(ODC1):c.1045A>C (p.Lys349Gln)	ODC1 (K220Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2399831	NM_002539.3(ODC1):c.1036C>G (p.Pro346Ala)	ODC1 (P217A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631622	NM_002539.3(ODC1):c.991dup (p.Tyr331fs)	ODC1 (Y202fs +1 more)	Duplication (frameshift variant)	ODC1-related disorder	GUncertain significance
Select item 2650672	NM_002539.3(ODC1):c.951T>C (p.Tyr317=)	ODC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582976	NM_002539.3(ODC1):c.927G>A (p.Ser309=)	ODC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032854	NM_002539.3(ODC1):c.926C>T (p.Ser309Leu)	ODC1 (S180L +1 more)	Single nucleotide variant (missense variant)	ODC1-related disorder	GLikely benign
Select item 2573723	NM_002539.3(ODC1):c.914-1G>C	ODC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1699146	NM_002539.3(ODC1):c.912T>G (p.Asp304Glu)	ODC1 (D175E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GUncertain significance
Select item 1326728	NM_002539.3(ODC1):c.791C>T (p.Pro264Leu)	ODC1 (P135L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650673	NM_002539.3(ODC1):c.773C>T (p.Ala258Val)	ODC1 (A129V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2359088	NM_002539.3(ODC1):c.757G>C (p.Gly253Arg)	ODC1 (G253R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1704776	NM_002539.3(ODC1):c.719G>A (p.Gly240Glu)	ODC1 (G111E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3204034	NM_002539.3(ODC1):c.718G>A (p.Gly240Arg)	ODC1 (G240R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627183	NM_002539.3(ODC1):c.661A>G (p.Met221Val)	ODC1 (M221V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364278	NM_002539.3(ODC1):c.643G>C (p.Ala215Pro)	ODC1 (A215P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662520	NM_002539.3(ODC1):c.640G>C (p.Asp214His)	ODC1 (D214H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2343197	NM_002539.3(ODC1):c.610G>A (p.Asp204Asn)	ODC1 (D204N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676888	NM_002539.3(ODC1):c.585-2A>G	ODC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3343411	NM_002539.3(ODC1):c.580G>A (p.Val194Ile)	ODC1 (V194I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635918	NM_002539.3(ODC1):c.575T>C (p.Val192Ala)	ODC1 (V192A +1 more)	Single nucleotide variant (missense variant)	ODC1-related disorder	GUncertain significance
Select item 3302173	NM_002539.3(ODC1):c.566T>C (p.Ile189Thr)	ODC1 (I189T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3204033	NM_002539.3(ODC1):c.533G>A (p.Arg178Lys)	ODC1 (R178K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1343887	NM_002539.3(ODC1):c.497dup (p.Ser167fs)	ODC1 (S167fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2320097	NM_002539.3(ODC1):c.493C>T (p.Arg165Cys)	ODC1 (R165C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650674	NM_002539.3(ODC1):c.468C>T (p.Ala156=)	ODC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650675	NM_002539.3(ODC1):c.436C>T (p.His146Tyr)	ODC1 (H146Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389236	NM_002539.3(ODC1):c.364T>A (p.Tyr122Asn)	ODC1 (Y122N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204032	NM_002539.3(ODC1):c.273C>G (p.Ser91Arg)	ODC1 (S91R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3365988	NM_002539.3(ODC1):c.271A>G (p.Ser91Gly)	ODC1 (S91G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1299887	NM_002539.3(ODC1):c.250G>A (p.Gly84Arg)	ODC1 (G84R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 2302664	NM_002539.3(ODC1):c.247A>G (p.Thr83Ala)	ODC1 (T83A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529517	NM_002539.3(ODC1):c.121T>A (p.Tyr41Asn)	ODC1 (Y41N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803451	NM_002539.3(ODC1):c.115G>A (p.Ala39Thr)	ODC1 (A39T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679701	NM_002539.3(ODC1):c.103G>A (p.Asp35Asn)	ODC1 (D35N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with alopecia and brain abnormalities	GUncertain significance
Select item 3204035	NM_002539.3(ODC1):c.98C>T (p.Ser33Phe)	ODC1 (S33F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2444742	NM_002539.3(ODC1):c.71T>G (p.Leu24Arg)	ODC1 (L24R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1298792	NM_002539.3(ODC1):c.42C>T (p.Leu14=)	ODC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2488057	NM_002539.3(ODC1):c.38T>A (p.Phe13Tyr)	ODC1 (F13Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650676	NM_002539.3(ODC1):c.6C>G (p.Asn2Lys)	ODC1 (N2K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 13806	NM_002539.3(ODC1):c.-128+109G>A	LOC129933100, ODC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808002	GRCh37/hg19 2p25.1(chr2:10562411-10918922)x3	ATP6V1C2, HPCAL1 +2 more	Copy number gain	not provided	GUncertain significance
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 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 689169	GRCh37/hg19 2p25.1(chr2:10479046-11113701)x3	ATP6V1C2, HPCAL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	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 3360284	NM_002539.3(ODC1):c.192dup (p.Phe65fs)	ODC1 (F65fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance

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Items: 93