"Invitae"[submitter] AND "DRC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583561	NC_000002.11:g.(?_26624838)_(26644288_?)dup	DRC1, LOC129933333	Duplication	Primary ciliary dyskinesia	GUncertain significance
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 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)	Inborn genetic diseases +1 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 21 +2 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 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 +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 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	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 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)	not provided +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	GLikely benign
Select item 454986	NM_145038.5(DRC1):c.215G>C (p.Ser72Thr)	DRC1 (S72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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	GUncertain significance
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 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 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 +1 more	GPathogenic/Likely pathogenic
Select item 55840	NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	DRC1 (Q118*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 647453	NM_145038.5(DRC1):c.356+3A>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	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 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)	Primary ciliary dyskinesia	GLikely benign
Select item 1040529	NM_145038.5(DRC1):c.409A>G (p.Ile137Val)	DRC1 (I137V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2744643	NM_145038.5(DRC1):c.411C>A (p.Ile137=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 863391	NM_145038.5(DRC1):c.418A>C (p.Lys140Gln)	DRC1 (K140Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 407099	NM_145038.5(DRC1):c.421T>G (p.Trp141Gly)	DRC1 (W141G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1075022	NM_145038.5(DRC1):c.427G>T (p.Glu143Ter)	DRC1 (E143*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 749519	NM_145038.5(DRC1):c.453A>G (p.Gln151=)	DRC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445267	NM_145038.5(DRC1):c.460T>C (p.Trp154Arg)	DRC1 (W154R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525381	NM_145038.5(DRC1):c.463G>A (p.Glu155Lys)	DRC1 (E155K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1664484	NM_145038.5(DRC1):c.471C>T (p.Leu157=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1494104	NM_145038.5(DRC1):c.476C>T (p.Thr159Ile)	DRC1 (T159I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1354474	NM_145038.5(DRC1):c.479A>C (p.Gln160Pro)	DRC1 (Q160P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 656581	NM_145038.5(DRC1):c.494_495delinsTG (p.Ala165Val)	DRC1 (A165V)	Indel (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262566	NM_145038.5(DRC1):c.495T>G (p.Ala165=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 21 +3 more	GBenign
Select item 241941	NM_145038.5(DRC1):c.495T>A (p.Ala165=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1080019	NM_145038.5(DRC1):c.501C>T (p.Leu167=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1498456	NM_145038.5(DRC1):c.513_515del (p.Lys171del)	DRC1 (K171del)	Deletion (inframe_deletion)	Primary ciliary dyskinesia	GUncertain significance
Select item 525290	NM_145038.5(DRC1):c.528C>T (p.Ser176=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1597896	NM_145038.5(DRC1):c.537G>A (p.Gln179=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1234210	NM_145038.5(DRC1):c.540+12G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 2017999	NM_145038.5(DRC1):c.541-14A>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1087626	NM_145038.5(DRC1):c.561C>T (p.Asp187=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1926206	NM_145038.5(DRC1):c.603C>T (p.Cys201=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 454990	NM_145038.5(DRC1):c.616C>T (p.Arg206Trp)	DRC1 (R206W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 565442	NM_145038.5(DRC1):c.617G>A (p.Arg206Gln)	DRC1 (R206Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 454991	NM_145038.5(DRC1):c.655C>T (p.Arg219Cys)	DRC1 (R219C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2721635	NM_145038.5(DRC1):c.660G>A (p.Glu220=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 956836	NM_145038.5(DRC1):c.673dup (p.Ile225fs)	DRC1 (I225fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2148898	NM_145038.5(DRC1):c.674T>A (p.Ile225Asn)	DRC1 (I225N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 414291	NM_145038.5(DRC1):c.675T>C (p.Ile225=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1541258	NM_145038.5(DRC1):c.678+8G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2024840	NM_145038.5(DRC1):c.678+17A>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1618878	NM_145038.5(DRC1):c.679-4G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1578157	NM_145038.5(DRC1):c.684A>G (p.Ala228=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1494597	NM_145038.5(DRC1):c.686T>C (p.Phe229Ser)	DRC1 (F229S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 947168	NM_145038.5(DRC1):c.697C>T (p.Arg233Cys)	DRC1 (R233C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2392082	NM_145038.5(DRC1):c.698G>A (p.Arg233His)	DRC1 (R233H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 864180	NM_145038.5(DRC1):c.712G>T (p.Ala238Ser)	DRC1 (A238S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1663072	NM_145038.5(DRC1):c.717T>C (p.Ser239=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1451951	NM_145038.5(DRC1):c.732G>A (p.Trp244Ter)	DRC1 (W244*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic

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