345895[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1269442	NC_000006.12:g.116616179C>T	RSPH4A	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1276787	NC_000006.12:g.116616231G>T	RSPH4A	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1215651	NC_000006.12:g.116616310T>A	RSPH4A	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1257264	NC_000006.12:g.116616387TC[7]	RSPH4A	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 1225257	NC_000006.12:g.116616387TC[5]	RSPH4A	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 355117	NM_001010892.3(RSPH4A):c.-88A>G	LOC129997051, RSPH4A	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 907279	NM_001010892.3(RSPH4A):c.-50T>C	LOC129997051, RSPH4A	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 1706787	NM_001010892.3(RSPH4A):c.-17_-16insCACGCCCCT	LOC129997051, RSPH4A	Insertion (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 179470	NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA	LOC129997051, RSPH4A	Indel (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1707228	NM_001010892.3(RSPH4A):c.-13T>A	LOC129997051, RSPH4A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1706779	NM_001010892.3(RSPH4A):c.-12_-11insCCA	LOC129997051, RSPH4A	Insertion (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 525311	NM_001010892.3(RSPH4A):c.11C>G (p.Ser4Ter)	RSPH4A (S4*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1981921	NM_001010892.3(RSPH4A):c.15C>T (p.Thr5=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1612713	NM_001010892.3(RSPH4A):c.15C>A (p.Thr5=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1942773	NM_001010892.3(RSPH4A):c.18C>T (p.Ser6=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1426742	NM_001010892.3(RSPH4A):c.25C>A (p.Gln9Lys)	RSPH4A (Q9K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1480505	NM_001010892.3(RSPH4A):c.35A>T (p.Glu12Val)	RSPH4A (E12V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2656865	NM_001010892.3(RSPH4A):c.39C>T (p.Asn13=)	RSPH4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1742545	NM_001010892.3(RSPH4A):c.46G>C (p.Glu16Gln)	RSPH4A (E16Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 930014	NM_001010892.3(RSPH4A):c.65G>A (p.Arg22Gln)	LOC129997052, RSPH4A (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2113289	NM_001010892.3(RSPH4A):c.72G>A (p.Trp24Ter)	LOC129997052, RSPH4A (W24*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1025255	NM_001010892.3(RSPH4A):c.84A>G (p.Thr28=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451385	NM_001010892.3(RSPH4A):c.91T>C (p.Ser31Pro)	LOC129997052, RSPH4A (S31P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 216487	NM_001010892.3(RSPH4A):c.91_92delinsCT (p.Ser31Leu)	LOC129997052, RSPH4A (S31L)	Indel (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451393	NM_001010892.3(RSPH4A):c.92C>T (p.Ser31Phe)	LOC129997052, RSPH4A (S31F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 415506	NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3236432	NM_001010892.3(RSPH4A):c.103T>C (p.Ser35Pro)	LOC129997052, RSPH4A (S35P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 285786	NM_001010892.3(RSPH4A):c.111_125del (p.Glu38_Pro42del)	LOC129997052, RSPH4A	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2011218	NM_001010892.3(RSPH4A):c.104C>A (p.Ser35Tyr)	LOC129997052, RSPH4A (S35Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1447488	NM_001010892.3(RSPH4A):c.110C>G (p.Pro37Arg)	LOC129997052, RSPH4A (P37R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 666983	NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)	LOC129997052, RSPH4A (S39*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +1 more	GPathogenic/Likely pathogenic
Select item 1741911	NM_001010892.3(RSPH4A):c.117G>T (p.Ser39=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 957147	NM_001010892.3(RSPH4A):c.134C>T (p.Ala45Val)	LOC129997052, RSPH4A (A45V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2010566	NM_001010892.3(RSPH4A):c.144G>T (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 93465	NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 647100	NM_001010892.3(RSPH4A):c.145C>A (p.Pro49Thr)	LOC129997052, RSPH4A (P49T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1421348	NM_001010892.3(RSPH4A):c.152C>G (p.Thr51Ser)	LOC129997052, RSPH4A (T51S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2347502	NM_001010892.3(RSPH4A):c.157C>T (p.Arg53Cys)	LOC129997052, RSPH4A (R53C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 208994	NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)	LOC129997052, RSPH4A (R56fs)	Duplication (frameshift variant)	Kartagener syndrome	Gnot provided
Select item 907280	NM_001010892.3(RSPH4A):c.198A>G (p.Arg66=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 1073812	NM_001010892.3(RSPH4A):c.203dup (p.Thr69fs)	RSPH4A (T69fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 525444	NM_001010892.3(RSPH4A):c.203A>G (p.Lys68Arg)	RSPH4A (K68R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1001409	NM_001010892.3(RSPH4A):c.206C>T (p.Thr69Met)	RSPH4A (T69M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1786882	NM_001010892.3(RSPH4A):c.215G>T (p.Gly72Val)	RSPH4A (G72V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 755408	NM_001010892.3(RSPH4A):c.222C>T (p.Pro74=)	RSPH4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109649	NM_001010892.3(RSPH4A):c.224C>T (p.Ala75Val)	RSPH4A (A75V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2630542	NM_001010892.3(RSPH4A):c.235del (p.Thr79fs)	RSPH4A (T79fs)	Deletion (frameshift variant)	RSPH4A-related disorder	GLikely pathogenic
Select item 977573	NM_001010892.3(RSPH4A):c.236C>T (p.Thr79Ile)	RSPH4A (T79I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 355118	NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454524	NM_001010892.3(RSPH4A):c.242C>T (p.Ser81Leu)	RSPH4A (S81L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1607673	NM_001010892.3(RSPH4A):c.255C>T (p.Val85=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 238209	NM_001010892.3(RSPH4A):c.259C>T (p.Pro87Ser)	RSPH4A (P87S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1793774	NM_001010892.3(RSPH4A):c.260C>T (p.Pro87Leu)	RSPH4A (P87L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 415507	NM_001010892.3(RSPH4A):c.261G>A (p.Pro87=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2009429	NM_001010892.3(RSPH4A):c.266A>G (p.Glu89Gly)	RSPH4A (E89G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1382355	NM_001010892.3(RSPH4A):c.268C>A (p.Pro90Thr)	RSPH4A (P90T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 704949	NM_001010892.3(RSPH4A):c.279T>C (p.Ser93=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 933631	NM_001010892.3(RSPH4A):c.281C>T (p.Pro94Leu)	RSPH4A (P94L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 907281	NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu)	RSPH4A (P96L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 853738	NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu)	RSPH4A (P99L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 698793	NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr)	RSPH4A (D103Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 504	NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)	RSPH4A (Q109*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1420865	NM_001010892.3(RSPH4A):c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro)	RSPH4A	Indel (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 695469	NM_001010892.3(RSPH4A):c.341C>A (p.Thr114Lys)	RSPH4A (T114K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2703393	NM_001010892.3(RSPH4A):c.375T>C (p.Pro125=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2109740	NM_001010892.3(RSPH4A):c.389A>G (p.Gln130Arg)	RSPH4A (Q130R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2544889	NM_001010892.3(RSPH4A):c.394T>A (p.Ser132Thr)	RSPH4A (S132T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2190341	NM_001010892.3(RSPH4A):c.396T>C (p.Ser132=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 847512	NM_001010892.3(RSPH4A):c.397G>A (p.Asp133Asn)	RSPH4A (D133N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2419399	NM_001010892.3(RSPH4A):c.413C>A (p.Thr138Asn)	RSPH4A (T138N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1738554	NM_001010892.3(RSPH4A):c.418C>A (p.His140Asn)	RSPH4A (H140N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525269	NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)	RSPH4A (Q144*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +1 more	GConflicting classifications of pathogenicity
Select item 1699853	NM_001010892.3(RSPH4A):c.444C>A (p.Asn148Lys)	RSPH4A (N148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178799	NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)	RSPH4A (T149S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2417260	NM_001010892.3(RSPH4A):c.462_469del (p.Gln155fs)	RSPH4A (Q155fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 503	NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)	RSPH4A (Q154*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 944120	NM_001010892.3(RSPH4A):c.461A>G (p.Gln154Arg)	RSPH4A (Q154R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1906431	NM_001010892.3(RSPH4A):c.465A>G (p.Gln155=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1070566	NM_001010892.3(RSPH4A):c.479del (p.Leu160fs)	RSPH4A (L160fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 935782	NM_001010892.3(RSPH4A):c.488G>A (p.Arg163Gln)	RSPH4A (R163Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 257051	NM_001010892.3(RSPH4A):c.492G>A (p.Arg164=)	RSPH4A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1637300	NM_001010892.3(RSPH4A):c.495C>T (p.Asp165=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1745081	NM_001010892.3(RSPH4A):c.505A>G (p.Asn169Asp)	RSPH4A (N169D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2165091	NM_001010892.3(RSPH4A):c.511G>C (p.Ala171Pro)	RSPH4A (A171P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2099866	NM_001010892.3(RSPH4A):c.512C>T (p.Ala171Val)	RSPH4A (A171V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1745842	NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter)	RSPH4A (Q173*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 580401	NM_001010892.3(RSPH4A):c.522dup (p.Glu175fs)	RSPH4A (E175fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1094673	NM_001010892.3(RSPH4A):c.540T>C (p.Val180=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 839549	NM_001010892.3(RSPH4A):c.560A>T (p.Asn187Ile)	RSPH4A (N187I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 579121	NM_001010892.3(RSPH4A):c.563G>A (p.Ser188Asn)	RSPH4A (S188N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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