RSPH9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 149124	GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3	GTPBP2, LOC121132685 +27 more	Copy number gain	See cases	GUncertain significance
Select item 262684	NM_152732.5(RSPH9):c.-18A>G	RSPH9	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 12 +2 more	GBenign
Select item 2887444	NM_152732.5(RSPH9):c.1A>T (p.Met1Leu)	RSPH9 (M1L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1392419	NM_152732.5(RSPH9):c.1A>G (p.Met1Val)	RSPH9 (M1V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1297692	NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)	RSPH9 (M1T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2877428	NM_152732.5(RSPH9):c.9C>G (p.Ala3=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2064067	NM_152732.5(RSPH9):c.11A>G (p.Asp4Gly)	RSPH9 (D4G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1087327	NM_152732.5(RSPH9):c.18C>G (p.Leu6=)	RSPH9	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2802377	NM_152732.5(RSPH9):c.24_25delinsTG (p.Ser9Ala)	RSPH9 (S9A)	Indel (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1023203	NM_152732.5(RSPH9):c.25T>C (p.Ser9Pro)	RSPH9 (S9P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2799059	NM_152732.5(RSPH9):c.27T>C (p.Ser9=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1728793	NM_152732.5(RSPH9):c.31G>A (p.Glu11Lys)	RSPH9 (E11K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 66995	NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)	RSPH9 (Q18*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 12	GPathogenic
Select item 3017514	NM_152732.5(RSPH9):c.66G>A (p.Pro22=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2797862	NM_152732.5(RSPH9):c.72T>G (p.Arg24=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3156746	NM_152732.5(RSPH9):c.73C>T (p.Arg25Trp)	RSPH9 (R25W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315577	NM_152732.5(RSPH9):c.76G>C (p.Ala26Pro)	RSPH9 (A26P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1767533	NM_152732.5(RSPH9):c.95T>C (p.Leu32Pro)	RSPH9 (L32P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 575069	NM_152732.5(RSPH9):c.98T>C (p.Met33Thr)	RSPH9 (M33T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 734486	NM_152732.5(RSPH9):c.108G>A (p.Lys36=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 910837	NM_152732.5(RSPH9):c.112G>T (p.Asp38Tyr)	RSPH9 (D38Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 525272	NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter)	RSPH9 (Y39*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1999409	NM_152732.5(RSPH9):c.118C>G (p.Arg40Gly)	RSPH9 (R40G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 955333	NM_152732.5(RSPH9):c.118C>T (p.Arg40Cys)	RSPH9 (R40C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2729091	NM_152732.5(RSPH9):c.122A>G (p.Tyr41Cys)	RSPH9 (Y41C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2113079	NM_152732.5(RSPH9):c.124G>C (p.Asp42His)	RSPH9 (D42H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156742	NM_152732.5(RSPH9):c.126T>G (p.Asp42Glu)	RSPH9 (D42E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1898805	NM_152732.5(RSPH9):c.128G>A (p.Arg43Gln)	RSPH9 (R43Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2146496	NM_152732.5(RSPH9):c.129G>A (p.Arg43=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 2008250	NM_152732.5(RSPH9):c.129G>T (p.Arg43=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1769640	NM_152732.5(RSPH9):c.131_144delinsG (p.Val44fs)	RSPH9 (V44fs)	Indel (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 697495	NM_152732.5(RSPH9):c.135C>T (p.Leu45=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 910838	NM_152732.5(RSPH9):c.146G>T (p.Arg49Leu)	RSPH9 (R49L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 1491809	NM_152732.5(RSPH9):c.154G>T (p.Gly52Cys)	RSPH9 (G52C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3229273	NM_152732.5(RSPH9):c.159C>G (p.Leu53=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1964592	NM_152732.5(RSPH9):c.159C>T (p.Leu53=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3061445	NM_152732.5(RSPH9):c.176T>A (p.Ile59Asn)	RSPH9 (I59N)	Single nucleotide variant (missense variant +1 more)	RSPH9-related disorder	GUncertain significance
Select item 1424528	NM_152732.5(RSPH9):c.191G>A (p.Ser64Asn)	RSPH9 (S64N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1783934	NM_152732.5(RSPH9):c.198C>T (p.Asp66=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 639923	NM_152732.5(RSPH9):c.200del (p.Gln67fs)	RSPH9 (Q67fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2736543	NM_152732.5(RSPH9):c.204C>T (p.Leu68=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 948296	NM_152732.5(RSPH9):c.205G>T (p.Ala69Ser)	RSPH9 (A69S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2039952	NM_152732.5(RSPH9):c.227+14dup	RSPH9	Duplication (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 1141201	NM_152732.5(RSPH9):c.227+9G>T	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1993153	NM_152732.5(RSPH9):c.227+14C>T	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2838420	NM_152732.5(RSPH9):c.227+15G>T	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2732594	NM_152732.5(RSPH9):c.227+20G>A	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1275889	NM_152732.5(RSPH9):c.227+42C>T	RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268774	NM_152732.5(RSPH9):c.227+118G>A	RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280408	NM_152732.5(RSPH9):c.227+271dup	RSPH9	Duplication (intron variant)	not provided	GBenign
Select item 1302471	NM_152732.5(RSPH9):c.227+271del	RSPH9	Deletion (intron variant)	not provided	GBenign
Select item 1265187	NM_152732.5(RSPH9):c.228-117A>G	RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283125	NM_152732.5(RSPH9):c.228-102C>T	RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251341	NM_152732.5(RSPH9):c.228-86C>T	RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 454992	NM_152732.5(RSPH9):c.228-6T>A	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2154209	NM_152732.5(RSPH9):c.235T>C (p.Cys79Arg)	RSPH9 (C79R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3229274	NM_152732.5(RSPH9):c.239C>T (p.Thr80Ile)	RSPH9 (T80I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1344608	NM_152732.5(RSPH9):c.244del (p.Trp82fs)	RSPH9 (W82fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1442285	NM_152732.5(RSPH9):c.249C>A (p.Ser83Arg)	RSPH9 (S83R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525281	NM_152732.5(RSPH9):c.260C>G (p.Pro87Arg)	RSPH9 (P87R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 241994	NM_152732.5(RSPH9):c.263C>T (p.Ala88Val)	RSPH9 (A88V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1408243	NM_152732.5(RSPH9):c.271G>C (p.Glu91Gln)	RSPH9 (E91Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1376100	NM_152732.5(RSPH9):c.272A>G (p.Glu91Gly)	RSPH9 (E91G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 357016	NM_152732.5(RSPH9):c.276G>A (p.Met92Ile)	RSPH9 (M92I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1444848	NM_152732.5(RSPH9):c.281C>T (p.Ala94Val)	RSPH9 (A94V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 12 +1 more	GUncertain significance
Select item 1796571	NM_152732.5(RSPH9):c.282G>A (p.Ala94=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 581601	NM_152732.5(RSPH9):c.283C>T (p.Gln95Ter)	RSPH9 (Q95*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 525546	NM_152732.5(RSPH9):c.288G>A (p.Ser96=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2736333	NM_152732.5(RSPH9):c.290C>T (p.Ser97Phe)	RSPH9 (S97F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156743	NM_152732.5(RSPH9):c.305G>A (p.Arg102His)	RSPH9 (R102H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1391563	NM_152732.5(RSPH9):c.312G>C (p.Met104Ile)	RSPH9 (M104I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 262685	NM_152732.5(RSPH9):c.327C>T (p.Tyr109=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1477175	NM_152732.5(RSPH9):c.328G>A (p.Glu110Lys)	RSPH9 (E110K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525364	NM_152732.5(RSPH9):c.330A>G (p.Glu110=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 379253	NM_152732.5(RSPH9):c.333T>G (p.Tyr111Ter)	RSPH9 (Y111*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1732688	NM_152732.5(RSPH9):c.355G>A (p.Val119Met)	RSPH9 (V119M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 454993	NM_152732.5(RSPH9):c.373G>C (p.Val125Leu)	RSPH9 (V125L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 2315309	NM_152732.5(RSPH9):c.384A>T (p.Glu128Asp)	RSPH9 (E128D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 357017	NM_152732.5(RSPH9):c.385G>A (p.Glu129Lys)	RSPH9 (E129K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 2063036	NM_152732.5(RSPH9):c.386A>G (p.Glu129Gly)	RSPH9 (E129G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 834954	NM_152732.5(RSPH9):c.389T>C (p.Ile130Thr)	RSPH9 (I130T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 935977	NM_152732.5(RSPH9):c.393+1G>A	RSPH9	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2182143	NM_152732.5(RSPH9):c.393+2del	RSPH9	Deletion (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2051245	NM_152732.5(RSPH9):c.393+11A>C	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 912058	NM_152732.5(RSPH9):c.393+13G>A	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 1198068	NM_152732.5(RSPH9):c.393+220G>A	RSPH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183671	NM_152732.5(RSPH9):c.394-197C>T	RSPH9, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267883	NM_152732.5(RSPH9):c.394-185C>T	RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291720	NM_152732.5(RSPH9):c.394-157A>C	RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2961516	NM_152732.5(RSPH9):c.401T>C (p.Ile134Thr)	RSPH9 (I134T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1998797	NM_152732.5(RSPH9):c.405G>A (p.Lys135=)	RSPH9	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1005619	NM_152732.5(RSPH9):c.406G>C (p.Glu136Gln)	RSPH9 (E136Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 220293	NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys)	RSPH9 (R139C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2725744	NM_152732.5(RSPH9):c.416G>A (p.Arg139His)	RSPH9 (R139H)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 165063	NM_152732.5(RSPH9):c.421G>A (p.Val141Met)	RSPH9 (V141M)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1990900	NM_152732.5(RSPH9):c.445A>G (p.Lys149Glu)	RSPH9 (K134E +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance

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