ClinVar for MedGen (Select 1648365) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377562	NM_001372.4(DNAH9):c.10495G>C (p.Glu3499Gln)	DNAH9, LOC101928350 (E3499Q)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 3377561	NM_001372.4(DNAH9):c.10367del (p.Leu3456fs)	DNAH9, LOC101928350 (L3456fs)	Deletion (non-coding transcript variant +1 more)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 3068162	NM_001372.4(DNAH9):c.3671G>A (p.Arg1224His)	DNAH9 (R1224H)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 3065496	NM_001372.4(DNAH9):c.7553-1G>T	DNAH9	Single nucleotide variant (splice acceptor variant)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 2664692	NM_001372.4(DNAH9):c.2021del (p.Ser674fs)	DNAH9 (S674fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 2584906	NM_001372.4(DNAH9):c.12404T>C (p.Ile4135Thr)	DNAH9 (I4135T +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 2584905	NM_001372.4(DNAH9):c.13318C>T (p.Gln4440Ter)	DNAH9 (Q4440* +1 more)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 2582764	NM_001372.4(DNAH9):c.10940C>G (p.Thr3647Ser)	DNAH9, LOC101928350 (T3647S)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 2446880	NM_001372.4(DNAH9):c.12047A>G (p.Asn4016Ser)	DNAH9 (N328S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441968	NM_001372.4(DNAH9):c.1858C>T (p.Arg620Cys)	DNAH9 (R620C)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 2441824	NM_001372.4(DNAH9):c.3583C>T (p.Pro1195Ser)	DNAH9 (P1195S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440924	NM_001372.4(DNAH9):c.3386G>T (p.Ser1129Ile)	DNAH9 (S1129I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 2440923	NM_001372.4(DNAH9):c.10139T>C (p.Ile3380Thr)	DNAH9 (I3380T)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 2440922	NM_001372.4(DNAH9):c.13415del (p.Pro4472fs)	DNAH9 (P4472fs +1 more)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 2186539	NM_001372.4(DNAH9):c.8293del (p.Glu2765fs)	DNAH9 (E2765fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40 +1 more	GPathogenic/Likely pathogenic
Select item 2149750	NM_001372.4(DNAH9):c.7513G>A (p.Val2505Met)	DNAH9 (V2505M)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 2058097	NM_001372.4(DNAH9):c.250C>T (p.Arg84Cys)	DNAH9 (R84C)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GConflicting classifications of pathogenicity
Select item 2045054	NM_001372.4(DNAH9):c.13244T>C (p.Ile4415Thr)	DNAH9 (I727T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1899712	NM_001372.4(DNAH9):c.7409G>A (p.Arg2470Gln)	DNAH9 (R2470Q)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1722374	NM_001372.4(DNAH9):c.4918C>T (p.Arg1640Ter)	DNAH9, LOC126862506 (R1640*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 1710144	NM_001372.4(DNAH9):c.5266C>T (p.Gln1756Ter)	DNAH9 (Q1756*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 1698754	NM_001372.4(DNAH9):c.11209T>C (p.Ser3737Pro)	DNAH9 (S3737P +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 1667298	NM_001372.4(DNAH9):c.6297C>T (p.Pro2099=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 1653887	NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met)	DNAH9, LOC101928350 (T3618M)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 40 +2 more	GConflicting classifications of pathogenicity
Select item 1646199	NM_001372.4(DNAH9):c.11284-20A>G	DNAH9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1643256	NM_001372.4(DNAH9):c.12640G>T (p.Gly4214Cys)	DNAH9 (G4214C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1625474	NM_001372.4(DNAH9):c.6259A>G (p.Met2087Val)	DNAH9 (M2087V)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 1600607	NM_001372.4(DNAH9):c.10422A>G (p.Lys3474=)	DNAH9, LOC101928350	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 1599154	NM_001372.4(DNAH9):c.4745+11G>A	DNAH9	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 1587767	NM_001372.4(DNAH9):c.10971+10_10971+12del	DNAH9, LOC101928350	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1582076	NM_001372.4(DNAH9):c.6810C>T (p.His2270=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 1574113	NM_001372.4(DNAH9):c.5691G>A (p.Ser1897=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1536223	NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met)	DNAH9 (K286M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1514281	NM_001372.4(DNAH9):c.1901+1G>A	DNAH9	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 40 +1 more	GLikely pathogenic
Select item 1496658	NM_001372.4(DNAH9):c.5383G>A (p.Ala1795Thr)	DNAH9 (A1795T)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +2 more	GUncertain significance
Select item 1492740	NM_001372.4(DNAH9):c.11039C>T (p.Ala3680Val)	DNAH9 (A3680V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1481524	NM_001372.4(DNAH9):c.7267G>A (p.Asp2423Asn)	DNAH9 (D2423N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1464229	NM_001372.4(DNAH9):c.39G>C (p.Glu13Asp)	DNAH9 (E13D)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +2 more	GUncertain significance
Select item 1455970	NM_001372.4(DNAH9):c.308del (p.Phe103fs)	DNAH9 (F103fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1446125	NM_001372.4(DNAH9):c.9203G>T (p.Arg3068Leu)	DNAH9 (R3068L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1439891	NM_001372.4(DNAH9):c.10460C>G (p.Thr3487Arg)	DNAH9, LOC101928350 (T3487R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1436443	NM_001372.4(DNAH9):c.8893C>T (p.Arg2965Cys)	DNAH9 (R2965C)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1419177	NM_001372.4(DNAH9):c.3593G>C (p.Trp1198Ser)	DNAH9 (W1198S)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1372359	NM_001372.4(DNAH9):c.2354G>A (p.Gly785Asp)	DNAH9 (G785D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355800	NM_001372.4(DNAH9):c.2584G>T (p.Ala862Ser)	DNAH9 (A862S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1352499	NM_001372.4(DNAH9):c.6457G>A (p.Ala2153Thr)	DNAH9 (A2153T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333258	NM_001372.4(DNAH9):c.6669G>A (p.Trp2223Ter)	DNAH9 (W2223*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 1325563	NM_001372.4(DNAH9):c.4778A>G (p.Tyr1593Cys)	DNAH9 (Y1593C)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 1325561	NM_001372.4(DNAH9):c.2066C>T (p.Thr689Met)	DNAH9 (T689M)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GConflicting classifications of pathogenicity
Select item 1324282	NM_001372.4(DNAH9):c.12106-1G>A	DNAH9	Single nucleotide variant (splice acceptor variant)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 1324278	NM_001372.4(DNAH9):c.11599C>T (p.Arg3867Ter)	DNAH9 (R179* +1 more)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 1324274	NM_001372.4(DNAH9):c.8839C>T (p.Arg2947Ter)	DNAH9 (R2947*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 1322757	NM_001372.4(DNAH9):c.760_761del (p.Phe254fs)	DNAH9 (F254fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 1311784	NM_001372.4(DNAH9):c.6283G>A (p.Gly2095Arg)	DNAH9 (G2095R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304095	NM_001372.4(DNAH9):c.11444G>A (p.Arg3815Gln)	DNAH9 (R127Q +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1273191	NM_001372.4(DNAH9):c.306T>C (p.Phe102=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1255517	NM_001372.4(DNAH9):c.11014C>A (p.Arg3672=)	DNAH9	Single nucleotide variant (synonymous variant +1 more)	Ciliary dyskinesia, primary, 40	GBenign
Select item 1255516	NM_001372.4(DNAH9):c.2929-18G>A	DNAH9, LOC126862505	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 1252963	NM_001372.4(DNAH9):c.9247-17G>A	DNAH9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1247792	NM_001372.4(DNAH9):c.10243-26G>A	DNAH9, LOC101928350	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 1243755	NM_001372.4(DNAH9):c.8808C>T (p.Asn2936=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 1233984	NM_001372.4(DNAH9):c.1334A>G (p.Gln445Arg)	DNAH9 (Q445R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1065458	NM_001372.4(DNAH9):c.4234C>T (p.Gln1412Ter)	DNAH9 (Q1412*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 1050395	NM_001372.4(DNAH9):c.6518G>A (p.Arg2173Gln)	DNAH9 (R2173Q)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 1029327	NM_001372.4(DNAH9):c.12925C>T (p.Arg4309Ter)	DNAH9 (R621* +1 more)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 982812	NM_001372.4(DNAH9):c.7345-5del	DNAH9	Deletion (intron variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 777132	NM_001372.4(DNAH9):c.8598C>T (p.Ser2866=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 617525	NM_001372.4(DNAH9):c.10127dup (p.Leu3376fs)	DNAH9 (L3376fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 617524	NM_001372.4(DNAH9):c.3354-1G>T	DNAH9	Single nucleotide variant (splice acceptor variant)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 617523	NM_001372.4(DNAH9):c.1970+4A>G	DNAH9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 617522	NM_001372.4(DNAH9):c.[5641A>G;8894G>A]	DNAH9 (K1881E +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 617521	NM_001372.4(DNAH9):c.8251C>T (p.Gln2751Ter)	DNAH9 (Q2751*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 617520	NM_001372.4(DNAH9):c.8708-2A>G	DNAH9	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 617519	NM_001372.4(DNAH9):c.10193G>T (p.Arg3398Leu)	DNAH9 (R3398L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 617518	NM_001372.4(DNAH9):c.12367G>A (p.Asp4123Asn)	DNAH9 (D4123N +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 523437	NM_001372.4(DNAH9):c.308dup (p.Leu104fs)	DNAH9 (L104fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 40 +1 more	GPathogenic
Select item 523436	NM_001372.4(DNAH9):c.11666C>G (p.Ser3889Ter)	DNAH9 (S3889* +1 more)	Single nucleotide variant (nonsense)	Abnormal cardiovascular system morphology +1 more	GUncertain significance
Select item 402783	NM_001372.4(DNAH9):c.10855T>C (p.Leu3619=)	DNAH9, LOC101928350	Single nucleotide variant (synonymous variant +1 more)	Ciliary dyskinesia, primary, 40 +2 more	GBenign
Select item 402782	NM_001372.4(DNAH9):c.9744C>G (p.Pro3248=)	DNAH9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 402781	NM_001372.4(DNAH9):c.9543G>A (p.Pro3181=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +2 more	GBenign/Likely benign
Select item 402780	NM_001372.4(DNAH9):c.9247-14C>T	DNAH9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 402778	NM_001372.4(DNAH9):c.6584A>G (p.Asn2195Ser)	DNAH9 (N2195S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 402777	NM_001372.4(DNAH9):c.6330C>T (p.Asn2110=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 402776	NM_001372.4(DNAH9):c.3369T>C (p.Asp1123=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 402773	NM_001372.4(DNAH9):c.429C>T (p.Pro143=)	DNAH9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Items: 85