ClinVar for MedGen (Select 462810) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017587	NM_031427.4(DNAL1):c.265-12G>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 3017512	NM_031427.4(DNAL1):c.3+8C>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 3015499	NM_031427.4(DNAL1):c.498A>T (p.Ala166=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 3008891	NM_031427.4(DNAL1):c.321G>A (p.Lys107=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2976167	NM_031427.4(DNAL1):c.279C>T (p.Asp93=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2955850	NM_031427.4(DNAL1):c.296G>A (p.Trp99Ter)	DNAL1 (W60* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 16	GPathogenic
Select item 2832689	NM_031427.4(DNAL1):c.265-15T>A	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2797362	NM_031427.4(DNAL1):c.42+13G>A	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2731048	NM_031427.4(DNAL1):c.483C>T (p.Asn161=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2719047	NM_031427.4(DNAL1):c.349T>C (p.Leu117=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2426971	NC_000014.8:g.(?_74153942)_(74156238_?)del	DNAL1	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 2414518	NM_031427.4(DNAL1):c.153-20T>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2176179	NM_031427.4(DNAL1):c.200A>G (p.Asn67Ser)	DNAL1 (N28S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 2098165	NM_031427.4(DNAL1):c.559G>A (p.Glu187Lys)	DNAL1 (E187K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 2084251	NM_031427.4(DNAL1):c.209-13C>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2063010	NM_031427.4(DNAL1):c.152+14T>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2041286	NM_031427.4(DNAL1):c.209-12_209-8del	DNAL1	Microsatellite (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2021509	NM_031427.4(DNAL1):c.516del (p.Lys172fs)	DNAL1 (K133fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 2004901	NM_031427.4(DNAL1):c.16A>G (p.Thr6Ala)	DNAL1 (T6A)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 1985370	NM_031427.4(DNAL1):c.264+13TTA[2]	DNAL1	Microsatellite (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1963849	NM_031427.4(DNAL1):c.3+17C>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1687458	NM_031427.4(DNAL1):c.263T>C (p.Leu88Pro)	DNAL1 (L49P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 1625697	NM_031427.4(DNAL1):c.129C>T (p.Ser43=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1598304	NM_031427.4(DNAL1):c.265-17A>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1592674	NM_031427.4(DNAL1):c.4-19C>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1568671	NM_031427.4(DNAL1):c.330G>A (p.Gly110=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1550877	NM_031427.4(DNAL1):c.42+8C>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1427773	NM_031427.4(DNAL1):c.532+11C>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1378690	NM_031427.4(DNAL1):c.136A>G (p.Met46Val)	DNAL1 (M7V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 1109663	NM_031427.4(DNAL1):c.153-7T>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1004436	NM_031427.4(DNAL1):c.530A>G (p.Asp177Gly)	DNAL1 (D138G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 940642	NM_031427.4(DNAL1):c.34G>A (p.Ala12Thr)	DNAL1 (A12T)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 939135	NM_031427.4(DNAL1):c.264+4G>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 708249	NM_031427.4(DNAL1):c.43-9T>C	DNAL1	Single nucleotide variant (intron variant)	DNAL1-related condition +1 more	GLikely benign
Select item 704701	NM_031427.4(DNAL1):c.3+9C>A	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 695251	NM_031427.4(DNAL1):c.6G>A (p.Ala2=)	DNAL1	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GLikely benign
Select item 662859	NC_000014.9:g.(?_73671522)_(73671617_?)del	DNAL1	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 661003	NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser)	DNAL1 (A158S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	LOC130056084, LOC130056085 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 656064	NM_031427.4(DNAL1):c.286GAA[1] (p.Glu97del)	DNAL1 (E58del +1 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 655692	NM_031427.4(DNAL1):c.181G>C (p.Glu61Gln)	DNAL1 (E22Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 639680	NM_031427.4(DNAL1):c.503del (p.Lys168fs)	DNAL1 (K168fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 578088	NM_031427.4(DNAL1):c.35C>T (p.Ala12Val)	DNAL1 (A12V)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 539288	NM_031427.4(DNAL1):c.221T>G (p.Ile74Arg)	DNAL1 (I74R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 497477	NM_031427.4(DNAL1):c.517C>T (p.Leu173=)	DNAL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 471908	NM_031427.4(DNAL1):c.533-2A>G	DNAL1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 471907	NM_031427.4(DNAL1):c.234A>G (p.Gly78=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 417385	NC_000014.9:g.(?_73671542)_(73671597_?)del	DNAL1	Deletion	Primary ciliary dyskinesia 16	GUncertain significance
Select item 414001	NM_031427.4(DNAL1):c.4-10T>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 414000	NM_031427.4(DNAL1):c.4-4A>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 406536	NM_031427.4(DNAL1):c.384del (p.Asp129fs)	DNAL1 (D90fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 16	GPathogenic
Select item 406527	NM_031427.4(DNAL1):c.486G>A (p.Trp162Ter)	DNAL1 (W162* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 16	GPathogenic
Select item 314018	NM_031427.4(DNAL1):c.490G>A (p.Glu164Lys)	DNAL1 (E164K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 314017	NM_031427.4(DNAL1):c.243C>T (p.Asn81=)	DNAL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 314015	NM_031427.4(DNAL1):c.42+9A>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16 +1 more	GBenign/Likely benign
Select item 261960	NM_031427.4(DNAL1):c.43-4A>G	DNAL1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 261958	NM_031427.4(DNAL1):c.348A>G (p.Lys116=)	DNAL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 261957	NM_031427.4(DNAL1):c.153-12G>C	DNAL1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 241619	NM_031427.4(DNAL1):c.492A>G (p.Glu164=)	DNAL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 241618	NM_031427.4(DNAL1):c.391+9A>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GBenign
Select item 228252	NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer)	DNAL1	Deletion (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 220484	NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp)	DNAL1 (E27D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 195386	NM_031427.4(DNAL1):c.4-15T>C	DNAL1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178765	NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)	DNAL1 (L100V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163172	NM_031427.4(DNAL1):c.532+11C>T	DNAL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 30816	NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)	DNAL1 (N150S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GPathogenic

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Items: 66