ClinVar for Gene (Select 1837) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3583236	NM_001386795.1(DTNA):c.68-3T>A	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 3505622	NM_001386795.1(DTNA):c.784C>G (p.His262Asp)	DTNA (H262D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3505621	NM_001386795.1(DTNA):c.1024A>G (p.Met342Val)	DTNA (M342V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3505620	NM_001386795.1(DTNA):c.473C>G (p.Ser158Cys)	DTNA (S158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391936	GRCh37/hg19 18q11.2-12.1(chr18:21553578-32172480)x1	AQP4, ASXL3 +31 more	Copy number loss	not provided	GPathogenic
Select item 3391862	GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	ACAA2, ADNP2 +195 more	Copy number gain	not provided	GPathogenic
Select item 3390324	GRCh37/hg19 18q12.1(chr18:32418058-32418801)x1	DTNA	Copy number loss	not provided	GUncertain significance
Select item 3384215	Single allele	LOC110121416, OSBPL1A +439 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 3363147	NM_001386795.1(DTNA):c.1651_1671del (p.Lys552_Arg558del)	DTNA	Deletion	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GUncertain significance
Select item 3363146	NM_001386795.1(DTNA):c.1666G>A (p.Glu556Lys)	DTNA (E529K +14 more)	Single nucleotide variant (missense variant)	MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2	GPathogenic
Select item 3352683	NM_001386795.1(DTNA):c.1175G>A (p.Arg392His)	DTNA (R392H +1 more)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder	GUncertain significance
Select item 3346759	NM_001386795.1(DTNA):c.1108T>A (p.Ser370Thr)	DTNA (S370T +1 more)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder	GUncertain significance
Select item 3344437	NM_001386795.1(DTNA):c.749G>A (p.Ser250Asn)	DTNA (S250N)	Single nucleotide variant (missense variant +2 more)	DTNA-related disorder	GUncertain significance
Select item 3341773	NM_001386795.1(DTNA):c.1086-357C>T	DTNA (S363L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3086077	NM_001386795.1(DTNA):c.590G>T (p.Cys197Phe)	DTNA (C197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043518	NM_001386795.1(DTNA):c.1328T>G (p.Leu443Arg)	DTNA (L125R +3 more)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder	GUncertain significance
Select item 3032809	NM_001386795.1(DTNA):c.1085+9C>T	DTNA	Single nucleotide variant (intron variant)	DTNA-related disorder	GLikely benign
Select item 3032690	NM_001386795.1(DTNA):c.1086-352G>A	DTNA (G365S +1 more)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder	GUncertain significance
Select item 3031956	NM_001386795.1(DTNA):c.*2605C>T	DTNA (P692S)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder	GLikely benign
Select item 3024070	NM_001386795.1(DTNA):c.68-6C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 3020505	NM_001386795.1(DTNA):c.1051G>A (p.Val351Ile)	DTNA (V33I +3 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 3019259	NM_001386795.1(DTNA):c.16G>C (p.Gly6Arg)	DTNA (G6R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 3011470	NM_001386795.1(DTNA):c.754A>G (p.Met252Val)	DTNA (M2V +1 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 3008411	NM_001386795.1(DTNA):c.1786A>G (p.Ile596Val)	DTNA (I217V +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 3008120	NM_001386795.1(DTNA):c.2086_2088dup (p.Phe696_Leu697insPhe)	DTNA	Duplication (inframe_insertion)	Left ventricular noncompaction 1	GUncertain significance
Select item 3007670	NM_001386795.1(DTNA):c.1836C>T (p.Thr612=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2994249	NM_001386795.1(DTNA):c.1085+19A>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2990378	NM_001386795.1(DTNA):c.1814G>A (p.Arg605Gln)	DTNA (R287Q +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2989183	NM_001386795.1(DTNA):c.1886A>G (p.Gln629Arg)	DTNA (Q292R +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2982772	NM_001386795.1(DTNA):c.2140A>G (p.Thr714Ala)	DTNA (T377A +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2982209	NM_001386795.1(DTNA):c.1532+7C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2979447	NM_001386795.1(DTNA):c.560T>G (p.Phe187Cys)	DTNA (F187C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2976450	NM_001386795.1(DTNA):c.1344A>C (p.Ser448=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction 1	GLikely benign
Select item 2971961	NM_001386795.1(DTNA):c.2153G>T (p.Arg718Leu)	DTNA (R630L +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2971345	NM_001386795.1(DTNA):c.1744-11T>C	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2964670	NM_001386795.1(DTNA):c.2152C>T (p.Arg718Cys)	DTNA (R634C +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2962752	NM_001386795.1(DTNA):c.2158G>A (p.Asp720Asn)	DTNA (D633N +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2962722	NM_001386795.1(DTNA):c.1896T>A (p.Phe632Leu)	DTNA (F545L +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2961789	NM_001386795.1(DTNA):c.9A>T (p.Glu3Asp)	DTNA (E3D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2958077	NM_001386795.1(DTNA):c.353C>T (p.Ala118Val)	DTNA (A118V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2956764	NM_001386795.1(DTNA):c.1784C>T (p.Thr595Ile)	DTNA (T216I +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2956687	NM_001386795.1(DTNA):c.552T>G (p.Gly184=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2914870	NM_001386795.1(DTNA):c.709+8G>C	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2912471	NM_001386795.1(DTNA):c.710-5dup	DTNA	Duplication (5 prime UTR variant +1 more)	Left ventricular noncompaction 1	GBenign
Select item 2909181	NM_001386795.1(DTNA):c.1671G>C (p.Gln557His)	DTNA (Q500H +14 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2905370	NM_001386795.1(DTNA):c.1254-9C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2895904	NM_001386795.1(DTNA):c.25G>C (p.Gly9Arg)	DTNA (G9R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2892771	NM_001386795.1(DTNA):c.603+3dup	DTNA	Duplication (intron variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2882288	NM_001386795.1(DTNA):c.1676T>C (p.Met559Thr)	DTNA (M180T +14 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2882143	NM_001386795.1(DTNA):c.535A>G (p.Thr179Ala)	DTNA (T179A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2880248	NM_001386795.1(DTNA):c.2114C>G (p.Pro705Arg)	DTNA (P647R +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2877473	NM_001386795.1(DTNA):c.1776C>A (p.Pro592=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2874470	NM_001386795.1(DTNA):c.558A>T (p.Ser186=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2874441	NM_001386795.1(DTNA):c.2207A>G (p.Asn736Ser)	DTNA (N648S +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2872967	NM_001386795.1(DTNA):c.220A>G (p.Thr74Ala)	DTNA (T74A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2868161	NM_001386795.1(DTNA):c.1646+13A>G	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2866895	NM_001386795.1(DTNA):c.117C>A (p.Cys39Ter)	DTNA (C39*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 1	GUncertain significance
Select item 2865152	NM_001386795.1(DTNA):c.1343C>T (p.Ser448Leu)	DTNA (S130L +3 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 2863599	NM_001386795.1(DTNA):c.1002-2337G>A	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2855424	NM_001386795.1(DTNA):c.921G>A (p.Leu307=)	DTNA	Single nucleotide variant (synonymous variant +2 more)	Left ventricular noncompaction 1	GLikely benign
Select item 2852629	NM_001386795.1(DTNA):c.1792A>G (p.Arg598Gly)	DTNA (R219G +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2852185	NM_001386795.1(DTNA):c.1002-2312T>C	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2844344	NM_001386795.1(DTNA):c.998T>G (p.Ile333Ser)	DTNA (I15S +2 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 2834079	NM_001386795.1(DTNA):c.1619C>T (p.Thr540Ile)	DTNA (T135I +14 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2831796	NM_001386795.1(DTNA):c.1810A>G (p.Ile604Val)	DTNA (I225V +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2827044	NM_001386795.1(DTNA):c.196G>T (p.Ala66Ser)	DTNA (A66S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2826466	NM_001386795.1(DTNA):c.1317T>C (p.Tyr439=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 2815466	NM_001386795.1(DTNA):c.67+7A>G	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2798822	NM_001386795.1(DTNA):c.1002-2319T>C	DTNA (W337R)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 2796181	NM_001386795.1(DTNA):c.1347-6T>C	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2794026	NM_001386795.1(DTNA):c.667G>T (p.Val223Phe)	DTNA (V223F)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 2787135	NM_001386795.1(DTNA):c.1179T>G (p.Ser393=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction 1	GUncertain significance
Select item 2786260	NM_001386795.1(DTNA):c.2251A>T (p.Met751Leu)	DTNA (M433L +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2765338	NM_001386795.1(DTNA):c.1001+12T>C	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2760236	NM_001386795.1(DTNA):c.529C>T (p.Leu177=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2753907	NM_001386795.1(DTNA):c.2130T>A (p.Ser710Arg)	DTNA (S335R +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2745937	NM_001386795.1(DTNA):c.1995G>A (p.Glu665=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2740335	NM_001386795.1(DTNA):c.1253+9C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2730580	NM_001386795.1(DTNA):c.1435-3C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2730495	NM_001386795.1(DTNA):c.1253+18_1253+19delinsGT	DTNA	Indel (intron variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2730431	NM_001386795.1(DTNA):c.262A>G (p.Ile88Val)	DTNA (I88V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2730399	NM_001386795.1(DTNA):c.206A>C (p.Asn69Thr)	DTNA (N69T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2724660	NM_001386795.1(DTNA):c.148+1G>A	DTNA	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2718453	NM_001386795.1(DTNA):c.68-10C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2717079	NM_001386795.1(DTNA):c.1740A>G (p.Leu580=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2716532	NM_001386795.1(DTNA):c.1002-2340T>G	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2708326	NM_001386795.1(DTNA):c.372T>C (p.His124=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2708263	NM_001386795.1(DTNA):c.1532+1G>T	DTNA	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2705479	NM_001386795.1(DTNA):c.255C>A (p.Leu85=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2700372	NM_001386795.1(DTNA):c.684G>T (p.Leu228=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction 1	GLikely benign
Select item 2695447	NM_001386795.1(DTNA):c.271C>G (p.Gln91Glu)	DTNA (Q91E)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2694357	NM_001386795.1(DTNA):c.1770C>T (p.Ser590=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2684874	GRCh37/hg19 18q12.1(chr18:32019324-32389224)x3	DTNA	Copy number gain	not provided	GUncertain significance
Select item 2683455	NM_001386795.1(DTNA):c.1295A>C (p.Glu432Ala)	DTNA (E114A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2671909	NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile)	DTNA (L148I)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2648673	NM_001386795.1(DTNA):c.1999G>A (p.Gly667Arg)	DTNA (G288R +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648672	NM_001386795.1(DTNA):c.1167C>T (p.His389=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648671	NM_001386795.1(DTNA):c.962C>T (p.Pro321Leu)	DTNA (P321L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2635929	NM_001386795.1(DTNA):c.1331G>A (p.Arg444Gln)	DTNA (R126Q +3 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1 +1 more	GUncertain significance

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