ClinVar for MedGen (Select 390741) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435486	NM_001010892.3(RSPH4A):c.1829G>A (p.Arg610Gln)	RSPH4A (G565S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 1702954	NM_001010892.3(RSPH4A):c.1894G>A (p.Ala632Thr)	RSPH4A (A632T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 1447453	NM_001010892.3(RSPH4A):c.1547C>T (p.Ala516Val)	RSPH4A (A516V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1400514	NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala)	RSPH4A (V447A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11 +1 more	GUncertain significance
Select item 1395494	NM_001010892.3(RSPH4A):c.1436A>G (p.Asn479Ser)	RSPH4A (N479S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11 +1 more	GUncertain significance
Select item 1330295	NM_001010892.3(RSPH4A):c.1631G>A (p.Trp544Ter)	RSPH4A (W544*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11	GPathogenic
Select item 1069488	NM_001010892.3(RSPH4A):c.1558C>T (p.Arg520Ter)	RSPH4A (R520*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 957527	NM_001010892.3(RSPH4A):c.1774_1775del (p.Leu592fs)	RSPH4A (L592fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 11 +1 more	GPathogenic
Select item 949766	NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro)	RSPH4A (Q301P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 907343	NM_001010892.3(RSPH4A):c.2081A>G (p.Glu694Gly)	RSPH4A (E694G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 907342	NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His)	RSPH4A (Y657H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 11 +1 more	GUncertain significance
Select item 907341	NM_001010892.3(RSPH4A):c.1875A>G (p.Gln625=)	RSPH4A (N580S)	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 907282	NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr)	RSPH4A (A196T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11 +1 more	GUncertain significance
Select item 907281	NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu)	RSPH4A (P96L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11 +1 more	GConflicting classifications of pathogenicity
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 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 906336	NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp)	RSPH4A (R610W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 906335	NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=)	RSPH4A	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 906334	NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr)	RSPH4A (I583T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 905885	NM_001010892.3(RSPH4A):c.*491T>C	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GLikely benign
Select item 905884	NM_001010892.3(RSPH4A):c.*469T>C	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 905826	NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu)	RSPH4A (A493E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 904010	NM_001010892.3(RSPH4A):c.*250G>T	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GLikely benign
Select item 904009	NM_001010892.3(RSPH4A):c.*223A>T	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 903940	NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu)	RSPH4A (P445L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 903939	NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 845135	NM_001010892.3(RSPH4A):c.1274G>A (p.Gly425Asp)	RSPH4A (G425D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 838373	NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr)	RSPH4A (A699T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 695727	NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 666983	NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)	LOC129997052, RSPH4A (S39*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 651381	NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met)	RSPH4A (V371M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 650407	NM_001010892.3(RSPH4A):c.1103T>G (p.Val368Gly)	RSPH4A (V368G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 525269	NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)	RSPH4A (Q144*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454521	NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)	RSPH4A (R485*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +1 more	GPathogenic
Select item 454520	NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter)	RSPH4A (Q451*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +1 more	GPathogenic
Select item 454519	NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys)	RSPH4A (Y429C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 441117	NM_001010892.3(RSPH4A):c.1662+2_1662+5del	RSPH4A	Deletion (splice donor variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 355132	NM_001010892.3(RSPH4A):c.*500G>A	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 355131	NM_001010892.3(RSPH4A):c.*465T>C	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GBenign
Select item 355130	NM_001010892.3(RSPH4A):c.*436A>C	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GBenign
Select item 355129	NM_001010892.3(RSPH4A):c.*277A>G	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 355128	NM_001010892.3(RSPH4A):c.*224C>T	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 355127	NM_001010892.3(RSPH4A):c.*64A>C	RSPH4A	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 355125	NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)	RSPH4A (E701Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 355124	NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)	RSPH4A (P664S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 355123	NM_001010892.3(RSPH4A):c.1843C>G (p.Leu615Val)	RSPH4A (L615V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 355122	NM_001010892.3(RSPH4A):c.1559G>A (p.Arg520Gln)	RSPH4A (R520Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 355121	NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser)	RSPH4A (F505S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 355120	NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val)	RSPH4A (A416V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 355119	NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 355118	NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 11 +1 more	GConflicting classifications of pathogenicity
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 257048	NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)	RSPH4A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227903	NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)	RSPH4A	Single nucleotide variant (synonymous variant +1 more)	RSPH4A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 227901	NM_001010892.3(RSPH4A):c.1662+15C>T	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 11 +2 more	GConflicting classifications of pathogenicity
Select item 227055	NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val)	RSPH4A (A700V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 11 +3 more	GBenign
Select item 227054	NM_001010892.3(RSPH4A):c.1798+11G>A	RSPH4A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 227053	NM_001010892.3(RSPH4A):c.*8A>G	RSPH4A	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 215480	NM_001010892.3(RSPH4A):c.1917-4A>G	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 11 +2 more	GConflicting classifications of pathogenicity
Select item 197172	NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)	RSPH4A (E570Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197171	NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=)	RSPH4A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 193128	NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser)	RSPH4A (Y217S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11 +2 more	GUncertain significance
Select item 178801	NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)	RSPH4A (V497I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 178799	NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)	RSPH4A (T149S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 165062	NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)	RSPH4A (N627H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign
Select item 165061	NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)	RSPH4A (L589P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 11 +3 more	GBenign
Select item 165060	NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His)	RSPH4A (R556H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 11 +3 more	GBenign
Select item 165059	NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)	RSPH4A (R244H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 165058	NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)	RSPH4A (P195R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GUncertain significance
Select item 93465	NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 88863	NM_001010892.3(RSPH4A):c.921+3_921+6del	RSPH4A	Deletion (splice donor variant)	Primary ciliary dyskinesia +3 more	GPathogenic
Select item 66993	NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs)	RSPH4A (T424fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 11	GPathogenic
Select item 66992	NM_001010892.3(RSPH4A):c.667del (p.Ser223fs)	RSPH4A (S223fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 11	GPathogenic
Select item 505	NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)	RSPH4A (R490*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 504	NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)	RSPH4A (Q109*)	Single nucleotide variant (nonsense)	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

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Items: 76