54919[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 149320	GRCh38/hg38 7p22.3(chr7:45130-821632)x1	LOC101929756, LOC105375113 +45 more	Copy number loss	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	LOC129997768, LOC132089513 +102 more	Copy number loss	See cases	GUncertain significance
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 152911	GRCh38/hg38 7p22.3(chr7:689554-854872)x3	DNAAF5, LOC123924885 +15 more	Copy number gain	See cases	GUncertain significance
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 1223598	NC_000007.14:g.726379T>C	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222541	NC_000007.14:g.726531A>C	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183607	NC_000007.14:g.726579_726580insGATAC	DNAAF5, PRKAR1B	Insertion (intron variant)	not provided	GBenign
Select item 1244670	NC_000007.14:g.726583A>G	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1467902	NM_017802.4(DNAAF5):c.5C>A (p.Ala2Glu)	DNAAF5, PRKAR1B (A2E)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272531	NM_017802.4(DNAAF5):c.8C>T (p.Ala3Val)	DNAAF5, PRKAR1B (A3V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2414686	NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro)	DNAAF5, PRKAR1B (L4P)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1534961	NM_017802.4(DNAAF5):c.15G>C (p.Gly5=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1780377	NM_017802.4(DNAAF5):c.17T>C (p.Val6Ala)	DNAAF5, PRKAR1B (V6A)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083360	NM_017802.4(DNAAF5):c.19G>A (p.Ala7Thr)	DNAAF5, PRKAR1B (A7T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272534	NM_017802.4(DNAAF5):c.20C>T (p.Ala7Val)	DNAAF5, PRKAR1B (A7V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 654564	NM_017802.4(DNAAF5):c.22G>C (p.Glu8Gln)	DNAAF5, PRKAR1B (E8Q)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1790696	NM_017802.4(DNAAF5):c.23A>C (p.Glu8Ala)	DNAAF5, PRKAR1B (E8A)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3003647	NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 241204	NM_017802.4(DNAAF5):c.27C>T (p.Ala9=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 964688	NM_017802.4(DNAAF5):c.28G>C (p.Val10Leu)	DNAAF5, PRKAR1B (V10L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 241205	NM_017802.4(DNAAF5):c.30G>A (p.Val10=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1720619	NM_017802.4(DNAAF5):c.35C>A (p.Ala12Asp)	DNAAF5, PRKAR1B (A12D)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 935654	NM_017802.4(DNAAF5):c.49G>A (p.Glu17Lys)	DNAAF5, PRKAR1B (E17K)	Single nucleotide variant (intron variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 689528	NM_017802.4(DNAAF5):c.55dup (p.Ala19fs)	DNAAF5, PRKAR1B (A19fs)	Duplication (frameshift variant +2 more)	Primary ciliary dyskinesia 18	GPathogenic
Select item 2716147	NM_017802.4(DNAAF5):c.51G>A (p.Glu17=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1467641	NM_017802.4(DNAAF5):c.55G>T (p.Ala19Ser)	DNAAF5, LOC129997730 +1 more (A19S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1753322	NM_017802.4(DNAAF5):c.63G>C (p.Thr21=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3083364	NM_017802.4(DNAAF5):c.65C>T (p.Ala22Val)	DNAAF5, LOC129997730 +1 more (A22V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 566686	NM_017802.4(DNAAF5):c.67G>C (p.Glu23Gln)	DNAAF5, LOC129997730 +1 more (E23Q)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1946703	NM_017802.4(DNAAF5):c.69G>A (p.Glu23=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1367513	NM_017802.4(DNAAF5):c.69G>T (p.Glu23Asp)	PRKAR1B, DNAAF5 +1 more (E23D)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 260938	NM_017802.4(DNAAF5):c.72G>A (p.Ala24=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 759796	NM_017802.4(DNAAF5):c.78G>A (p.Glu26=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1523823	NM_017802.4(DNAAF5):c.79C>G (p.Leu27Val)	DNAAF5, LOC129997730 +1 more (L27V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2728897	NM_017802.4(DNAAF5):c.81G>A (p.Leu27=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2006685	NM_017802.4(DNAAF5):c.86G>A (p.Arg29His)	DNAAF5, LOC129997730 +1 more (R29H)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2808707	NM_017802.4(DNAAF5):c.99C>T (p.Arg33=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2715007	NM_017802.4(DNAAF5):c.105G>A (p.Leu35=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2755070	NM_017802.4(DNAAF5):c.114G>T (p.Leu38=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2915117	NM_017802.4(DNAAF5):c.120C>G (p.Ala40=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1093669	NM_017802.4(DNAAF5):c.129G>A (p.Lys43=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2880120	NM_017802.4(DNAAF5):c.130C>T (p.Pro44Ser)	DNAAF5, LOC129997730 +1 more (P44S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2563334	NM_017802.4(DNAAF5):c.133G>A (p.Gly45Ser)	DNAAF5, LOC129997730 +1 more (G45S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141721	NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1905045	NM_017802.4(DNAAF5):c.141G>A (p.Arg47=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2563333	NM_017802.4(DNAAF5):c.142C>T (p.Arg48Cys)	DNAAF5, LOC129997730 +1 more (R48C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2625515	NM_017802.4(DNAAF5):c.147C>T (p.Ala49=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2070567	NM_017802.4(DNAAF5):c.150G>T (p.Leu50Phe)	DNAAF5, LOC129997730 +1 more (L50F)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2335491	NM_017802.4(DNAAF5):c.160C>G (p.Arg54Gly)	DNAAF5, LOC129997730 +1 more (R54G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2153301	NM_017802.4(DNAAF5):c.169C>T (p.Leu57=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2340766	NM_017802.4(DNAAF5):c.172G>A (p.Glu58Lys)	DNAAF5, LOC129997730 +1 more (E58K)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1967020	NM_017802.4(DNAAF5):c.177G>A (p.Glu59=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 651896	NM_017802.4(DNAAF5):c.179C>T (p.Pro60Leu)	DNAAF5, LOC129997730 +1 more (P60L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1781110	NM_017802.4(DNAAF5):c.183C>G (p.Gly61=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1782486	NM_017802.4(DNAAF5):c.190G>T (p.Ala64Ser)	DNAAF5, LOC129997730 +1 more (A64S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1782482	NM_017802.4(DNAAF5):c.190G>A (p.Ala64Thr)	DNAAF5, LOC129997730 +1 more (A64T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083358	NM_017802.4(DNAAF5):c.191C>G (p.Ala64Gly)	DNAAF5, LOC129997730 +1 more (A64G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 843828	NM_017802.4(DNAAF5):c.208C>T (p.Gln70Ter)	DNAAF5, LOC129997730 +1 more (Q70*)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2730196	NM_017802.4(DNAAF5):c.210G>A (p.Gln70=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1786546	NM_017802.4(DNAAF5):c.213C>T (p.Gly71=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2314957	NM_017802.4(DNAAF5):c.214C>T (p.Pro72Ser)	DNAAF5, LOC129997730 +1 more (P72S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1489610	NM_017802.4(DNAAF5):c.215C>T (p.Pro72Leu)	DNAAF5, LOC129997730 +1 more (P72L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1787055	NM_017802.4(DNAAF5):c.216C>T (p.Pro72=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1958066	NM_017802.4(DNAAF5):c.218G>A (p.Trp73Ter)	DNAAF5, LOC129997730 +1 more (W73*)	Single nucleotide variant (intron variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1787401	NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)	PRKAR1B, DNAAF5 +1 more (W73S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 663116	NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu)	DNAAF5, LOC129997730 +1 more (A74E)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 3272532	NM_017802.4(DNAAF5):c.223C>T (p.Arg75Cys)	DNAAF5, LOC129997730 +1 more (R75C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2339240	NM_017802.4(DNAAF5):c.230T>C (p.Leu77Pro)	DNAAF5, LOC129997730 +1 more (L77P)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 701061	NM_017802.4(DNAAF5):c.231G>A (p.Leu77=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1089360	NM_017802.4(DNAAF5):c.237G>A (p.Pro79=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1516528	NM_017802.4(DNAAF5):c.238C>T (p.Arg80Cys)	DNAAF5, LOC129997730 +1 more (R80C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1791008	NM_017802.4(DNAAF5):c.241T>A (p.Leu81Met)	DNAAF5, LOC129997730 +1 more (L81M)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 941234	NM_017802.4(DNAAF5):c.246del (p.Arg83fs)	DNAAF5, LOC129997730 +1 more (R83fs)	Deletion (frameshift variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1369883	NM_017802.4(DNAAF5):c.247C>T (p.Arg83Cys)	DNAAF5, LOC129997730 +1 more (R83C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3338609	NM_017802.4(DNAAF5):c.250T>C (p.Cys84Arg)	LOC129997730, DNAAF5 +1 more (C84R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1932033	NM_017802.4(DNAAF5):c.259G>T (p.Asp87Tyr)	DNAAF5, PRKAR1B (D87Y)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1428786	NM_017802.4(DNAAF5):c.280G>A (p.Ala94Thr)	DNAAF5, PRKAR1B (A94T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2732840	NM_017802.4(DNAAF5):c.281C>G (p.Ala94Gly)	DNAAF5, PRKAR1B (A94G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 701477	NM_017802.4(DNAAF5):c.282G>A (p.Ala94=)	PRKAR1B, DNAAF5	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2543831	NM_017802.4(DNAAF5):c.287C>T (p.Ala96Val)	DNAAF5, PRKAR1B (A96V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 454863	NM_017802.4(DNAAF5):c.289G>A (p.Val97Met)	DNAAF5, PRKAR1B (V97M)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1176849	NM_017802.4(DNAAF5):c.293A>G (p.His98Arg)	DNAAF5, PRKAR1B (H98R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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