ClinVar for MedGen (Select 3467) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321747	NM_003114.5(SPAG1):c.724G>C (p.Val242Leu)	SPAG1 (V242L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321746	NM_003114.5(SPAG1):c.2420A>G (p.Tyr807Cys)	SPAG1 (Y807C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321745	NM_003114.5(SPAG1):c.2620T>A (p.Leu874Ile)	SPAG1 (L874I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321744	NM_003114.5(SPAG1):c.2674G>C (p.Gly892Arg)	SPAG1 (G892R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321743	NM_003114.5(SPAG1):c.1014G>T (p.Arg338Ser)	SPAG1 (R338S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321742	NM_003114.5(SPAG1):c.631C>T (p.Arg211Cys)	SPAG1 (R211C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315579	NM_152732.5(RSPH9):c.678G>T (p.Trp226Cys)	RSPH9 (W226C +3 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315578	NM_152732.5(RSPH9):c.511C>T (p.Arg171Trp)	RSPH9 (R171W +1 more)	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 3315576	NM_152732.5(RSPH9):c.762C>T (p.Arg254=)	RSPH9 (H272Y +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3315569	NM_001010892.3(RSPH4A):c.1424C>A (p.Pro475His)	RSPH4A (P475H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315568	NM_001010892.3(RSPH4A):c.1033A>G (p.Thr345Ala)	RSPH4A (T345A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315567	NM_001010892.3(RSPH4A):c.646G>A (p.Ala216Thr)	RSPH4A (A216T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315151	NM_000328.3(RPGR):c.2353A>G (p.Asn785Asp)	RPGR (N673D +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315150	NM_001034853.2(RPGR):c.1115C>G (p.Ala372Gly)	RPGR (A371G +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315149	NM_001034853.2(RPGR):c.1709C>A (p.Thr570Lys)	RPGR (T508K +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315148	NM_000328.3(RPGR):c.2384A>G (p.Gln795Arg)	RPGR (Q683R +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302191	NM_003611.3(OFD1):c.964A>G (p.Lys322Glu)	OFD1 (K322E +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302190	NM_003611.3(OFD1):c.2402A>G (p.Gln801Arg)	OFD1 (Q661R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302189	NM_003611.3(OFD1):c.2193C>T (p.Ser731=)	OFD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3302162	NM_018076.5(ODAD2):c.367C>G (p.Gln123Glu)	ODAD2 (Q123E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302161	NM_018076.5(ODAD2):c.661G>A (p.Glu221Lys)	ODAD2 (E221K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302160	NM_018076.5(ODAD2):c.2851A>G (p.Met951Val)	ODAD2 (M476V +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302159	NM_018076.5(ODAD2):c.2559C>G (p.Asp853Glu)	ODAD2 (D378E +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302158	NM_018076.5(ODAD2):c.650A>C (p.Gln217Pro)	ODAD2 (Q217P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302157	NM_018076.5(ODAD2):c.2294T>C (p.Leu765Pro)	ODAD2 (L290P +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302156	NM_018076.5(ODAD2):c.1302A>T (p.Glu434Asp)	ODAD2 (E126D +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3302155	NM_018076.5(ODAD2):c.2615C>A (p.Ala872Asp)	ODAD2 (A397D +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302154	NM_018076.5(ODAD2):c.1788A>T (p.Gln596His)	ODAD2 (Q596H +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302153	NM_018076.5(ODAD2):c.937G>A (p.Gly313Arg)	ODAD2 (G313R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302152	NM_018076.5(ODAD2):c.974A>G (p.Asp325Gly)	ODAD2 (D325G +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302151	NM_018076.5(ODAD2):c.2071G>A (p.Glu691Lys)	ODAD2 (E691K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302149	NM_018076.5(ODAD2):c.91T>C (p.Leu31=)	LOC126860891, ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3302148	NM_001364171.2(ODAD1):c.128G>A (p.Arg43Gln)	ODAD1 (R43Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302147	NM_001364171.2(ODAD1):c.1607C>T (p.Ala536Val)	ODAD1 (A536V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302146	NM_001364171.2(ODAD1):c.366G>T (p.Gln122His)	ODAD1 (Q122H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302145	NM_001364171.2(ODAD1):c.1145T>A (p.Val382Glu)	ODAD1 (V382E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3302144	NM_001364171.2(ODAD1):c.1928C>T (p.Ala643Val)	ODAD1 (A606V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3300157	NM_016616.5(NME8):c.478A>G (p.Ile160Val)	NME8 (I160V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3300156	NM_016616.5(NME8):c.244T>C (p.Cys82Arg)	NME8 (C82R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3300154	NM_016616.5(NME8):c.635_636del (p.Glu212fs)	NME8 (E212fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272989	NM_023036.6(DNAI2):c.977A>G (p.Glu326Gly)	DNAI2 (E326G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272988	NM_023036.6(DNAI2):c.1082C>T (p.Pro361Leu)	DNAI2 (P361L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272987	NM_023036.6(DNAI2):c.1445C>T (p.Ser482Leu)	DNAI2 (S470L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272986	NM_012144.4(DNAI1):c.228C>G (p.His76Gln)	DNAI1 (H76Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272983	NM_012144.4(DNAI1):c.1972C>T (p.Leu658Phe)	DNAI1 (L658F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272863	NM_001369.3(DNAH5):c.7451T>C (p.Phe2484Ser)	DNAH5 (F2484S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272862	NM_001369.3(DNAH5):c.9578A>T (p.His3193Leu)	DNAH5 (H3193L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272861	NM_001369.3(DNAH5):c.8218A>C (p.Ile2740Leu)	DNAH5 (I2740L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272860	NM_001369.3(DNAH5):c.2143T>A (p.Leu715Ile)	DNAH5 (L715I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272859	NM_001369.3(DNAH5):c.3123C>G (p.Ile1041Met)	DNAH5 (I1041M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272858	NM_001369.3(DNAH5):c.3967C>G (p.Leu1323Val)	DNAH5 (L1323V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272857	NM_001369.3(DNAH5):c.7900A>G (p.Ser2634Gly)	DNAH5 (S2634G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272856	NM_001369.3(DNAH5):c.1027G>A (p.Asp343Asn)	DNAH5 (D343N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272855	NM_001369.3(DNAH5):c.4732A>G (p.Thr1578Ala)	DNAH5 (T1578A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272854	NM_001369.3(DNAH5):c.10767A>G (p.Gln3589=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3272853	NM_001369.3(DNAH5):c.5492T>C (p.Leu1831Ser)	DNAH5 (L1831S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272852	NM_001369.3(DNAH5):c.9922A>C (p.Thr3308Pro)	DNAH5 (T3308P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272851	NM_001369.3(DNAH5):c.13138C>G (p.Leu4380Val)	DNAH5 (L4380V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272850	NM_001369.3(DNAH5):c.6589G>A (p.Asp2197Asn)	DNAH5 (D2197N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272848	NM_001369.3(DNAH5):c.11942A>C (p.Glu3981Ala)	DNAH5 (E3981A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272632	NM_001277115.2(DNAH11):c.2661G>T (p.Leu887Phe)	DNAH11 (L887F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272631	NM_001277115.2(DNAH11):c.10567G>T (p.Gly3523Trp)	DNAH11 (G3523W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272630	NM_001277115.2(DNAH11):c.5534T>C (p.Phe1845Ser)	DNAH11 (F1845S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272629	NM_001277115.2(DNAH11):c.12614C>T (p.Ala4205Val)	DNAH11 (A4205V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272628	NM_001277115.2(DNAH11):c.4114A>C (p.Lys1372Gln)	DNAH11 (K1372Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272627	NM_001277115.2(DNAH11):c.8355T>G (p.Ile2785Met)	DNAH11 (I2785M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272626	NM_001277115.2(DNAH11):c.8761A>G (p.Ser2921Gly)	DNAH11 (S2921G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272625	NM_001277115.2(DNAH11):c.2947A>T (p.Met983Leu)	DNAH11, LOC126859961 (M983L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272624	NM_001277115.2(DNAH11):c.12562T>G (p.Tyr4188Asp)	DNAH11 (Y4188D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272623	NM_001277115.2(DNAH11):c.2794A>G (p.Lys932Glu)	DNAH11 (K932E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272622	NM_001277115.2(DNAH11):c.11140C>T (p.Leu3714Phe)	DNAH11 (L3714F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272621	NM_001277115.2(DNAH11):c.5483C>T (p.Thr1828Ile)	DNAH11 (T1828I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272620	NM_001277115.2(DNAH11):c.10942T>C (p.Tyr3648His)	DNAH11 (Y3648H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272619	NM_001277115.2(DNAH11):c.893C>T (p.Pro298Leu)	DNAH11 (P298L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272618	NM_001277115.2(DNAH11):c.5529C>A (p.His1843Gln)	DNAH11 (H1843Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272617	NM_001277115.2(DNAH11):c.739G>T (p.Val247Phe)	DNAH11 (V247F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272616	NM_001277115.2(DNAH11):c.10507A>G (p.Ile3503Val)	DNAH11 (I3503V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272615	NM_001277115.2(DNAH11):c.7577G>A (p.Ser2526Asn)	DNAH11 (S2526N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272614	NM_001277115.2(DNAH11):c.1423G>C (p.Glu475Gln)	DNAH11 (E475Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272613	NM_001277115.2(DNAH11):c.5767A>C (p.Met1923Leu)	DNAH11 (M1923L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272612	NM_001277115.2(DNAH11):c.4295T>C (p.Leu1432Ser)	DNAH11 (L1432S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272611	NM_001277115.2(DNAH11):c.5795A>G (p.Tyr1932Cys)	DNAH11 (Y1932C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272610	NM_001277115.2(DNAH11):c.12749A>C (p.Lys4250Thr)	DNAH11 (K4250T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272609	NM_001277115.2(DNAH11):c.11799G>C (p.Leu3933=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3272608	NM_001277115.2(DNAH11):c.11308C>T (p.Leu3770Phe)	DNAH11 (L3770F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272607	NM_001277115.2(DNAH11):c.5062C>G (p.Pro1688Ala)	DNAH11 (P1688A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272606	NM_001277115.2(DNAH11):c.6955G>A (p.Val2319Met)	DNAH11 (V2319M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272605	NM_001277115.2(DNAH11):c.5163_5164insCAGCC (p.Ile1722fs)	DNAH11 (I1722fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 3272604	NM_001277115.2(DNAH11):c.6902A>T (p.His2301Leu)	DNAH11 (H2301L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3272603	NM_001277115.2(DNAH11):c.10286G>T (p.Arg3429Leu)	DNAH11 (R3429L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272536	NM_017802.4(DNAAF5):c.1261A>G (p.Thr421Ala)	DNAAF5 (T421A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272535	NM_017802.4(DNAAF5):c.482C>T (p.Ala161Val)	DNAAF5, PRKAR1B (A161V)	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 3272533	NM_017802.4(DNAAF5):c.2093T>G (p.Val698Gly)	DNAAF5 (V698G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 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 3272530	NM_017802.4(DNAAF5):c.1028G>A (p.Arg343His)	DNAAF5 (R343H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3272529	NM_017802.4(DNAAF5):c.1569G>C (p.Leu523=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3272528	NM_017802.4(DNAAF5):c.920G>C (p.Ser307Thr)	DNAAF5 (S307T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance

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