MCIDAS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 1222048	NM_001190787.3(MCIDAS):c.*136T>A	MCIDAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287962	NM_001190787.3(MCIDAS):c.*8T>C	MCIDAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 864673	NM_001190787.3(MCIDAS):c.1154G>T (p.Ser385Ile)	MCIDAS (S385I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1502494	NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His)	MCIDAS (P384H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 209009	NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)	MCIDAS (R381H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2478924	NM_001190787.3(MCIDAS):c.1137G>C (p.Lys379Asn)	MCIDAS (K379N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2750706	NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2337205	NM_001190787.3(MCIDAS):c.1117A>G (p.Thr373Ala)	MCIDAS (T373A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 209008	NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)	MCIDAS (G366D)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 42	GPathogenic
Select item 2070574	NM_001190787.3(MCIDAS):c.1091C>G (p.Pro364Arg)	MCIDAS (P364R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 961021	NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val)	MCIDAS (A362V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 578223	NM_001190787.3(MCIDAS):c.1076G>T (p.Arg359Leu)	MCIDAS (R359L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238617	NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3124279	NM_001190787.3(MCIDAS):c.1055T>A (p.Ile352Asn)	MCIDAS (I352N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 575374	NM_001190787.3(MCIDAS):c.1054A>C (p.Ile352Leu)	MCIDAS (I352L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2727449	NM_001190787.3(MCIDAS):c.1053C>T (p.Arg351=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 525544	NM_001190787.3(MCIDAS):c.1050C>G (p.Thr350=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1647021	NM_001190787.3(MCIDAS):c.1047C>T (p.Ser349=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 939353	NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe)	MCIDAS (S347F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 3124278	NM_001190787.3(MCIDAS):c.1036G>A (p.Gly346Ser)	MCIDAS (G346S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 416336	NM_001190787.3(MCIDAS):c.1032G>A (p.Glu344=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 841768	NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter)	MCIDAS (L335*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic/Likely pathogenic
Select item 716342	NM_001190787.3(MCIDAS):c.1003T>C (p.Leu335=)	MCIDAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1035479	NM_001190787.3(MCIDAS):c.1001C>G (p.Ala334Gly)	MCIDAS (A334G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3124284	NM_001190787.3(MCIDAS):c.999C>A (p.Ser333Arg)	MCIDAS (S333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1008453	NM_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr)	MCIDAS (A322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1929547	NM_001190787.3(MCIDAS):c.950G>A (p.Gly317Glu)	MCIDAS (G317E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2598874	NM_001190787.3(MCIDAS):c.941C>A (p.Thr314Asn)	MCIDAS (T314N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1136060	NM_001190787.3(MCIDAS):c.930G>A (p.Ala310=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 743286	NM_001190787.3(MCIDAS):c.893G>A (p.Arg298His)	MCIDAS (R298H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1591560	NM_001190787.3(MCIDAS):c.882C>T (p.Ala294=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 238623	NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys)	MCIDAS (E286K)	Single nucleotide variant (missense variant)	MCIDAS-related condition +1 more	GBenign/Likely benign
Select item 2558075	NM_001190787.3(MCIDAS):c.849C>G (p.Ile283Met)	MCIDAS (I283M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318290	NM_001190787.3(MCIDAS):c.845C>G (p.Ala282Gly)	MCIDAS (A282G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403074	NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=)	MCIDAS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 454532	NM_001190787.3(MCIDAS):c.828T>C (p.Asp276=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 238622	NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu)	MCIDAS (G274E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2482379	NM_001190787.3(MCIDAS):c.793A>C (p.Ser265Arg)	MCIDAS (S265R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 454531	NM_001190787.3(MCIDAS):c.774C>T (p.Leu258=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 3124282	NM_001190787.3(MCIDAS):c.773T>C (p.Leu258Pro)	MCIDAS (L258P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2841364	NM_001190787.3(MCIDAS):c.759C>T (p.Ala253=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 697770	NM_001190787.3(MCIDAS):c.750G>A (p.Gly250=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2242758	NM_001190787.3(MCIDAS):c.740G>A (p.Arg247Gln)	MCIDAS (R247Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1636575	NM_001190787.3(MCIDAS):c.739C>A (p.Arg247=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 238621	NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)	MCIDAS (R247W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2740696	NM_001190787.3(MCIDAS):c.721C>T (p.Leu241=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2848878	NM_001190787.3(MCIDAS):c.718-5C>T	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1273984	NM_001190787.3(MCIDAS):c.717+92G>C	LOC129993891, MCIDAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2913838	NM_001190787.3(MCIDAS):c.717+20G>A	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1537284	NM_001190787.3(MCIDAS):c.717+16G>A	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1627607	NM_001190787.3(MCIDAS):c.717+13C>T	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 800285	NM_001190787.3(MCIDAS):c.717+2T>G	MCIDAS	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 42	GPathogenic
Select item 2546587	NM_001190787.3(MCIDAS):c.707C>G (p.Ser236Trp)	MCIDAS (S236W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1963518	NM_001190787.3(MCIDAS):c.690A>C (p.Arg230=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1055384	NM_001190787.3(MCIDAS):c.682G>T (p.Ala228Ser)	MCIDAS (A228S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2083826	NM_001190787.3(MCIDAS):c.662_678del (p.Asn221fs)	MCIDAS (N221fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 741696	NM_001190787.3(MCIDAS):c.666G>A (p.Val222=)	MCIDAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549784	NM_001190787.3(MCIDAS):c.665T>A (p.Val222Glu)	MCIDAS (V222E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 525348	NM_001190787.3(MCIDAS):c.643G>T (p.Ala215Ser)	MCIDAS (A215S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238620	NM_001190787.3(MCIDAS):c.638A>G (p.Glu213Gly)	MCIDAS (E213G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 934536	NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter)	MCIDAS (Q209*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1624418	NM_001190787.3(MCIDAS):c.618A>G (p.Thr206=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2122632	NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1810250	NM_001190787.3(MCIDAS):c.607-1G>T	MCIDAS	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2750302	NM_001190787.3(MCIDAS):c.607-12C>T	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2075930	NM_001190787.3(MCIDAS):c.607-13T>G	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1251151	NM_001190787.3(MCIDAS):c.607-157dup	MCIDAS	Duplication (intron variant)	not provided	GBenign
Select item 1282578	NM_001190787.3(MCIDAS):c.606+169G>C	MCIDAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1577113	NM_001190787.3(MCIDAS):c.606+20G>A	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1557847	NM_001190787.3(MCIDAS):c.606+17G>A	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1990538	NM_001190787.3(MCIDAS):c.606+16T>G	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1517175	NM_001190787.3(MCIDAS):c.604C>G (p.Gln202Glu)	MCIDAS (Q202E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1111813	NM_001190787.3(MCIDAS):c.577T>C (p.Leu193=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1129378	NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2204583	NM_001190787.3(MCIDAS):c.567C>A (p.Asn189Lys)	MCIDAS (N189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200401	NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1956759	NM_001190787.3(MCIDAS):c.550G>A (p.Glu184Lys)	MCIDAS (E184K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1933022	NM_001190787.3(MCIDAS):c.521A>G (p.Asp174Gly)	MCIDAS (D174G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1009148	NM_001190787.3(MCIDAS):c.512G>C (p.Arg171Pro)	MCIDAS (R171P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2690641	NM_001190787.3(MCIDAS):c.501del (p.Pro168fs)	MCIDAS (P168fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 42	GLikely pathogenic
Select item 525513	NM_001190787.3(MCIDAS):c.489G>A (p.Arg163=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 661152	NM_001190787.3(MCIDAS):c.475C>G (p.Pro159Ala)	MCIDAS (P159A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454530	NM_001190787.3(MCIDAS):c.474G>A (p.Pro158=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3124281	NM_001190787.3(MCIDAS):c.470C>T (p.Ser157Phe)	MCIDAS (S157F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124280	NM_001190787.3(MCIDAS):c.464G>A (p.Cys155Tyr)	MCIDAS (C155Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083741	NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1572841	NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=)	MCIDAS	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2505514	NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr)	MCIDAS (I149T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 209007	NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)	MCIDAS (C147*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 42	GPathogenic
Select item 1418126	NM_001190787.3(MCIDAS):c.422A>G (p.Asp141Gly)	MCIDAS (D141G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2518310	NM_001190787.3(MCIDAS):c.401C>T (p.Ser134Leu)	MCIDAS (S134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2741620	NM_001190787.3(MCIDAS):c.383-10TCT[3]	MCIDAS	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2011200	NM_001190787.3(MCIDAS):c.383-14C>T	MCIDAS	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1264852	NM_001190787.3(MCIDAS):c.382+119C>T	LOC123493307, MCIDAS	Single nucleotide variant (intron variant)	not provided	GBenign

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