ClinVar for Gene (Select 92749) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367126	NM_145038.5(DRC1):c.1196G>A (p.Trp399Ter)	DRC1 (W399*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 21	GLikely pathogenic
Select item 3342719	NM_145038.5(DRC1):c.1205G>A (p.Trp402Ter)	DRC1 (W402*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3273736	NM_145038.5(DRC1):c.2115G>T (p.Glu705Asp)	DRC1 (E705D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273735	NM_145038.5(DRC1):c.1549C>T (p.Pro517Ser)	DRC1 (P517S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247339	NC_000002.11:g.(?_26486228)_(26781439_?)del	ADGRF3, DRC1 +3 more	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3247068	NC_000002.11:g.(?_26644136)_(26644288_?)del	DRC1	Deletion	Primary ciliary dyskinesia	GPathogenic
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 3085729	NM_145038.5(DRC1):c.83A>G (p.His28Arg)	DRC1 (H28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085728	NM_145038.5(DRC1):c.785G>T (p.Arg262Leu)	DRC1 (R262L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085727	NM_145038.5(DRC1):c.634A>C (p.Lys212Gln)	DRC1 (K212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085726	NM_145038.5(DRC1):c.494C>T (p.Ala165Val)	DRC1 (A165V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085725	NM_145038.5(DRC1):c.1934C>T (p.Pro645Leu)	DRC1 (P645L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085724	NM_145038.5(DRC1):c.1831G>A (p.Glu611Lys)	DRC1 (E611K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3085723	NM_145038.5(DRC1):c.1661G>A (p.Arg554Gln)	DRC1 (R554Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3065629	NM_145038.5(DRC1):c.1028G>C (p.Arg343Pro)	DRC1 (R343P)	Single nucleotide variant (missense variant)	Spermatogenic failure 80	GLikely pathogenic
Select item 3065297	NM_145038.5(DRC1):c.797_801dup (p.Asp268Ter)	DRC1 (D268*)	Duplication (nonsense)	Spermatogenic failure 80	GLikely pathogenic
Select item 3015775	NM_145038.5(DRC1):c.2100A>G (p.Glu700=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3015393	NM_145038.5(DRC1):c.1206G>C (p.Trp402Cys)	DRC1 (W402C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3008399	NM_145038.5(DRC1):c.765+17G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3002239	NM_145038.5(DRC1):c.1689+11G>A	DRC1	Single nucleotide variant (intron 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 2979552	NM_145038.5(DRC1):c.1029-7C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2975617	NM_145038.5(DRC1):c.1366C>A (p.Gln456Lys)	DRC1 (Q456K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2959567	NM_145038.5(DRC1):c.1620G>A (p.Glu540=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2954622	NM_145038.5(DRC1):c.918A>G (p.Lys306=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2919088	NM_145038.5(DRC1):c.1392C>T (p.Arg464=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2914662	NM_145038.5(DRC1):c.2014T>C (p.Ser672Pro)	DRC1 (S672P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2914632	NM_145038.5(DRC1):c.1920-20A>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2913657	NM_145038.5(DRC1):c.1873G>A (p.Val625Ile)	DRC1 (V625I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2911163	NM_145038.5(DRC1):c.244-16A>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2910442	NM_145038.5(DRC1):c.2064-18C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2909706	NM_145038.5(DRC1):c.2167-13C>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2906709	NM_145038.5(DRC1):c.1013del (p.Lys338fs)	DRC1 (K338fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
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 2905995	NM_145038.5(DRC1):c.1920-13T>C	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2905396	NM_145038.5(DRC1):c.1920-15G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2901439	NM_145038.5(DRC1):c.1397-11C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2896869	NM_145038.5(DRC1):c.1338T>G (p.Ile446Met)	DRC1 (I446M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2893714	NM_145038.5(DRC1):c.1396+19T>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2891395	NM_145038.5(DRC1):c.2064-17G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2889358	NM_145038.5(DRC1):c.1690-6C>T	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 2858940	NM_145038.5(DRC1):c.1164-19C>G	DRC1	Single nucleotide variant (intron 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 2830674	NM_145038.5(DRC1):c.2202G>T (p.Val734=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2817718	NM_145038.5(DRC1):c.1350C>T (p.Pro450=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2816624	NM_145038.5(DRC1):c.1029-4C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2810122	NM_145038.5(DRC1):c.1221G>A (p.Glu407=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2809678	NM_145038.5(DRC1):c.2049C>G (p.Ala683=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2806768	NM_145038.5(DRC1):c.1980G>A (p.Glu660=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2804582	NM_145038.5(DRC1):c.1816_1818del (p.Glu606del)	DRC1 (E606del)	Deletion (inframe_deletion)	Primary ciliary dyskinesia	GUncertain significance
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 2799458	NM_145038.5(DRC1):c.765+19C>G	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 2793252	NM_145038.5(DRC1):c.1164-9C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2788048	NM_145038.5(DRC1):c.2167-20T>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2782423	NM_145038.5(DRC1):c.1160T>G (p.Met387Arg)	DRC1 (M387R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2781594	NM_145038.5(DRC1):c.1219G>A (p.Glu407Lys)	DRC1 (E407K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2763665	NM_145038.5(DRC1):c.1397-20T>G	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2761610	NM_145038.5(DRC1):c.1690-17C>G	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 2745492	NM_145038.5(DRC1):c.1163+10G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2743732	NM_145038.5(DRC1):c.889-15T>C	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2740858	NM_145038.5(DRC1):c.1756T>C (p.Leu586=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2736267	NM_145038.5(DRC1):c.1598C>T (p.Ser533Phe)	DRC1 (S533F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2733943	NM_145038.5(DRC1):c.1650C>T (p.Phe550=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2733073	NM_145038.5(DRC1):c.2166+7G>A	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2726696	NM_145038.5(DRC1):c.996A>G (p.Val332=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2723881	NM_145038.5(DRC1):c.766-7C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2723879	NM_145038.5(DRC1):c.766-13C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2722922	NM_145038.5(DRC1):c.1264A>G (p.Ile422Val)	DRC1 (I422V)	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 2721635	NM_145038.5(DRC1):c.660G>A (p.Glu220=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2716491	NM_145038.5(DRC1):c.1599+11C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2716404	NM_145038.5(DRC1):c.2172C>T (p.Asn724=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 2695232	NM_145038.5(DRC1):c.1434G>T (p.Glu478Asp)	DRC1 (E478D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2597846	NM_145038.5(DRC1):c.656G>A (p.Arg219His)	DRC1 (R219H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582075	NM_145038.5(DRC1):c.1349C>T (p.Pro450Leu)	DRC1 (P450L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579982	NM_145038.5(DRC1):c.*8C>T	DRC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2571772	NM_145038.5(DRC1):c.1277A>G (p.His426Arg)	DRC1 (H426R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540464	NM_145038.5(DRC1):c.1303C>T (p.Pro435Ser)	DRC1 (P435S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504575	NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter)	DRC1 (Q337*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 2494848	NM_145038.5(DRC1):c.1484T>A (p.Ile495Asn)	DRC1 (I495N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443827	NM_145038.5(DRC1):c.1660C>T (p.Arg554Ter)	DRC1 (R554*)	Single nucleotide variant (nonsense)	Spermatogenic failure 80	GPathogenic
Select item 2430924	NM_145038.5(DRC1):c.889-32TA[9]	DRC1	Microsatellite (intron variant)	not provided	GLikely benign
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 2427621	NC_000002.11:g.(?_26414119)_(26712628_?)dup	ADGRF3, DRC1 +4 more	Duplication	not provided	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2427325	NC_000002.11:g.(?_26667070)_(26667836_?)del	DRC1	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2427324	NC_000002.11:g.(?_26624858)_(26647342_?)del	DRC1	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	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 2416699	NM_145038.5(DRC1):c.1286G>A (p.Gly429Glu)	DRC1 (G429E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2415688	NM_145038.5(DRC1):c.1669C>T (p.Arg557Cys)	DRC1 (R557C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2415492	NM_145038.5(DRC1):c.2166+11G>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2414633	NM_145038.5(DRC1):c.785G>A (p.Arg262His)	DRC1 (R262H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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