24245[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 60106	GRCh38/hg38 2p23.3(chr2:26332971-26439657)x1	ADGRF3, DRC1 +4 more	Copy number loss	See cases	GPathogenic
Select item 1172761	NC_000002.12:g.26398040_26425787del	DRC1, LOC129933333	Deletion	Primary ciliary dyskinesia 21	GPathogenic
Select item 1243468	NC_000002.12:g.26401879C>A	DRC1	Single nucleotide variant	not provided	GBenign
Select item 1203685	NM_145038.5(DRC1):c.-40T>C	DRC1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 583561	NC_000002.11:g.(?_26624838)_(26644288_?)dup	LOC129933333, DRC1	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1275914	NM_145038.5(DRC1):c.-15C>T	DRC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2171531	NM_145038.5(DRC1):c.5A>T (p.Asn2Ile)	DRC1 (N2I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 641255	NM_145038.5(DRC1):c.7C>T (p.Pro3Ser)	DRC1 (P3S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1556464	NM_145038.5(DRC1):c.9G>T (p.Pro3=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2335341	NM_145038.5(DRC1):c.10C>T (p.Pro4Ser)	DRC1 (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 643296	NM_145038.5(DRC1):c.14G>A (p.Gly5Glu)	DRC1 (G5E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 241935	NM_145038.5(DRC1):c.15G>A (p.Gly5=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 571634	NM_145038.5(DRC1):c.26C>T (p.Ala9Val)	DRC1 (A9V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 241940	NM_145038.5(DRC1):c.36G>C (p.Pro12=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 851601	NM_145038.5(DRC1):c.39C>A (p.Asn13Lys)	DRC1 (N13K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2715296	NM_145038.5(DRC1):c.46G>A (p.Glu16Lys)	DRC1 (E16K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2721948	NM_145038.5(DRC1):c.56C>T (p.Ser19Phe)	DRC1 (S19F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 414298	NM_145038.5(DRC1):c.57C>T (p.Ser19=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1038406	NM_145038.5(DRC1):c.71C>A (p.Ala24Glu)	DRC1 (A24E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 407098	NM_145038.5(DRC1):c.74C>G (p.Pro25Arg)	DRC1 (P25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 643840	NM_145038.5(DRC1):c.77C>G (p.Ser26Trp)	DRC1 (S26W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3085729	NM_145038.5(DRC1):c.83A>G (p.His28Arg)	DRC1 (H28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2741835	NM_145038.5(DRC1):c.87C>G (p.Ser29=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1143944	NM_145038.5(DRC1):c.87C>T (p.Ser29=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2854014	NM_145038.5(DRC1):c.98A>G (p.Gln33Arg)	DRC1 (Q33R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 861286	NM_145038.5(DRC1):c.106_120dup (p.Ile36_Arg40dup)	DRC1	Duplication (inframe_insertion)	Primary ciliary dyskinesia	GUncertain significance
Select item 663966	NM_145038.5(DRC1):c.109dup (p.Gln37fs)	DRC1 (Q37fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 21 +2 more	GPathogenic/Likely pathogenic
Select item 1024129	NM_145038.5(DRC1):c.115C>G (p.Arg39Gly)	DRC1 (R39G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2428723	NM_145038.5(DRC1):c.116G>C (p.Arg39Pro)	DRC1 (R39P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21	GUncertain significance
Select item 958963	NM_145038.5(DRC1):c.134C>T (p.Ala45Val)	DRC1 (A45V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1038918	NM_145038.5(DRC1):c.137G>T (p.Arg46Leu)	DRC1 (R46L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 3085722	NM_145038.5(DRC1):c.145G>A (p.Ala49Thr)	DRC1 (A49T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 957104	NM_145038.5(DRC1):c.145G>T (p.Ala49Ser)	DRC1 (A49S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 756391	NM_145038.5(DRC1):c.153G>A (p.Arg51=)	DRC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000431	NM_145038.5(DRC1):c.155G>T (p.Arg52Leu)	DRC1 (R52L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1568921	NM_145038.5(DRC1):c.155+11G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2793527	NM_145038.5(DRC1):c.155+12G>C	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1283852	NM_145038.5(DRC1):c.155+30C>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691112	NM_145038.5(DRC1):c.156-1724_244-2550del	DRC1	Deletion (splice acceptor variant +1 more)	Kartagener syndrome	GLikely pathogenic
Select item 1286097	NM_145038.5(DRC1):c.156-234G>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272329	NM_145038.5(DRC1):c.156-228ATT[11]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239328	NM_145038.5(DRC1):c.156-228ATT[13]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1231646	NM_145038.5(DRC1):c.156-228ATT[12]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1293832	NM_145038.5(DRC1):c.156-228ATT[9]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1245084	NM_145038.5(DRC1):c.156-228ATT[8]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1276152	NM_145038.5(DRC1):c.156-144C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279891	NM_145038.5(DRC1):c.156-40T>C	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868260	NM_145038.5(DRC1):c.156-7A>C	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1713772	NM_145038.5(DRC1):c.169G>C (p.Glu57Gln)	DRC1 (E57Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 414288	NM_145038.5(DRC1):c.172T>C (p.Tyr58His)	DRC1 (Y58H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 2906473	NM_145038.5(DRC1):c.174T>C (p.Tyr58=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2187556	NM_145038.5(DRC1):c.178G>A (p.Asp60Asn)	DRC1 (D60N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1671912	NM_145038.5(DRC1):c.191A>G (p.Glu64Gly)	DRC1 (E64G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454986	NM_145038.5(DRC1):c.215G>C (p.Ser72Thr)	DRC1 (S72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1715170	NM_145038.5(DRC1):c.218A>G (p.Tyr73Cys)	DRC1 (Y73C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 940250	NM_145038.5(DRC1):c.220A>C (p.Lys74Gln)	DRC1 (K74Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2070266	NM_145038.5(DRC1):c.237C>A (p.Ser79Arg)	DRC1 (S79R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1806620	NM_145038.5(DRC1):c.238C>T (p.Arg80Ter)	DRC1 (R80*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1487431	NM_145038.5(DRC1):c.239G>A (p.Arg80Gln)	DRC1 (R80Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1603075	NM_145038.5(DRC1):c.243+9T>C	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2761248	NM_145038.5(DRC1):c.243+10G>C	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 714275	NM_145038.5(DRC1):c.243+10G>T	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178647	NM_145038.5(DRC1):c.244-342T>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274963	NM_145038.5(DRC1):c.244-289_244-288del	DRC1	Deletion (intron variant)	not provided	GBenign
Select item 2911163	NM_145038.5(DRC1):c.244-16A>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2000432	NM_145038.5(DRC1):c.244-14dup	DRC1	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2152582	NM_145038.5(DRC1):c.270C>T (p.Gly90=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2800751	NM_145038.5(DRC1):c.300T>C (p.Ala100=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3001256	NM_145038.5(DRC1):c.308T>C (p.Ile103Thr)	DRC1 (I103T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2339196	NM_145038.5(DRC1):c.308T>A (p.Ile103Asn)	DRC1 (I103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 407101	NM_145038.5(DRC1):c.313G>A (p.Glu105Lys)	DRC1 (E105K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 957493	NM_145038.5(DRC1):c.320A>G (p.His107Arg)	DRC1 (H107R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454989	NM_145038.5(DRC1):c.330C>T (p.Val110=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1457351	NM_145038.5(DRC1):c.344dup (p.Arg117fs)	DRC1 (R117fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 55840	NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	DRC1 (Q118*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 21 +2 more	GPathogenic/Likely pathogenic
Select item 647453	NM_145038.5(DRC1):c.356+3A>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1699884	NM_145038.5(DRC1):c.356+5G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 724104	NM_145038.5(DRC1):c.356+8C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1247318	NM_145038.5(DRC1):c.356+177dup	DRC1	Duplication (intron variant)	not provided	GBenign
Select item 1194175	NM_145038.5(DRC1):c.356+177del	DRC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1204735	NM_145038.5(DRC1):c.356+229C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274073	NM_145038.5(DRC1):c.357-260C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271432	NM_145038.5(DRC1):c.357-150C>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191704	NM_145038.5(DRC1):c.357-125G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282092	NM_145038.5(DRC1):c.357-68C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1657833	NM_145038.5(DRC1):c.357-15T>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2177040	NM_145038.5(DRC1):c.357-2A>G	DRC1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1577850	NM_145038.5(DRC1):c.367C>T (p.Leu123=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 525304	NM_145038.5(DRC1):c.379G>T (p.Val127Phe)	DRC1 (V127F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2420565	NM_145038.5(DRC1):c.391C>T (p.Gln131Ter)	DRC1 (Q131*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 575201	NM_145038.5(DRC1):c.396C>A (p.Asp132Glu)	DRC1 (D132E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 414285	NM_145038.5(DRC1):c.402C>T (p.Phe134=)	DRC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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