Snap29 Variant Search Result - Rat Genome Database

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346 records found for search term Snap29

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
152982069	CV1679025	single nucleotide variant	SNAP29, MET1?	CEDNIK syndrome [RCV002248387]	pathogenic				Human		name
8558895	CV20780	deletion	SNAP29, 1-BP DEL, 220G	CEDNIK syndrome [RCV000006097]	pathogenic				Human		name
405266877	CV3220120	single nucleotide variant	NM_004782.4(SNAP29):c.-3A>G	SNAP29-related disorder [RCV003969390]	likely benign	22	20859108	20859108	Human		name , trait , alternate_id
11623806	CV337543	single nucleotide variant	NM_004782.4(SNAP29):c.-5G>A	CEDNIK syndrome [RCV000377736]\|not provided [RCV001558736]\|not specified [RCV000516705]	benign\|likely benign	22	20859106	20859106	Human	1	name
11629934	CV351151	single nucleotide variant	NM_004782.4(SNAP29):c.-8C>G	CEDNIK syndrome [RCV000337114]\|not provided [RCV001546159]\|not specified [RCV000503693]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	20859103	20859103	Human	1	name
28874170	CV890888	single nucleotide variant	NM_004782.4(SNAP29):c.*6G>A	CEDNIK syndrome [RCV001147088]\|not specified [RCV001819851]	uncertain significance	22	20887842	20887842	Human	1	name
150406171	CV1195609	single nucleotide variant	NM_004782.4(SNAP29):c.-54G>T	not provided [RCV001571957]	likely benign	22	20859057	20859057	Human		name
11628085	CV347118	single nucleotide variant	NM_004782.4(SNAP29):c.-68A>T	CEDNIK syndrome [RCV000295212]\|not provided [RCV004712243]	benign\|likely benign	22	20859043	20859043	Human	1	name
11654398	CV347123	single nucleotide variant	NM_004782.4(SNAP29):c.-40T>G	CEDNIK syndrome [RCV000317418]	uncertain significance	22	20859071	20859071	Human	1	name
11629778	CV352155	single nucleotide variant	NM_004782.4(SNAP29):c.-76G>A	CEDNIK syndrome [RCV000333434]\|not provided [RCV004694655]	uncertain significance	22	20859035	20859035	Human	1	name
11631272	CV352157	single nucleotide variant	NM_004782.4(SNAP29):c.-32C>G	CEDNIK syndrome [RCV000372046]\|not provided [RCV001584045]	benign\|likely benign	22	20859079	20859079	Human	1	name
11627441	CV352170	single nucleotide variant	NM_004782.4(SNAP29):c.-19C>T	CEDNIK syndrome [RCV000282177]\|not provided [RCV001672608]\|not specified [RCV000433662]	benign\|no classifications from unflagged records	22	20859092	20859092	Human	1	name
28873933	CV890881	single nucleotide variant	NM_004782.4(SNAP29):c.-93G>T	CEDNIK syndrome [RCV001146982]	uncertain significance	22	20859018	20859018	Human	1	name
28873936	CV890882	single nucleotide variant	NM_004782.4(SNAP29):c.-60G>A	CEDNIK syndrome [RCV001146983]	uncertain significance	22	20859051	20859051	Human	1	name
28873939	CV890883	single nucleotide variant	NM_004782.4(SNAP29):c.-58C>A	CEDNIK syndrome [RCV001146984]	uncertain significance	22	20859053	20859053	Human	1	name
28874173	CV890889	single nucleotide variant	NM_004782.4(SNAP29):c.*26T>C	CEDNIK syndrome [RCV001147089]	likely benign	22	20887862	20887862	Human	1	name
28874177	CV890890	single nucleotide variant	NM_004782.4(SNAP29):c.*61C>G	CEDNIK syndrome [RCV001147090]	uncertain significance	22	20887897	20887897	Human	1	name
11622298	CV337560	single nucleotide variant	NM_004782.4(SNAP29):c.*614C>G	CEDNIK syndrome [RCV000358811]	likely benign\|uncertain significance	22	20888450	20888450	Human	1	name
11619283	CV337568	single nucleotide variant	NM_004782.4(SNAP29):c.*780G>T	CEDNIK syndrome [RCV000323769]	uncertain significance	22	20888616	20888616	Human	1	name
11631136	CV347139	single nucleotide variant	NM_004782.4(SNAP29):c.*123G>C	CEDNIK syndrome [RCV000369346]\|not provided [RCV001712130]	benign\|likely benign	22	20887959	20887959	Human	1	name
11626279	CV347144	single nucleotide variant	NM_004782.4(SNAP29):c.*138C>T	CEDNIK syndrome [RCV000260517]\|not provided [RCV004712244]	benign\|likely benign	22	20887974	20887974	Human	1	name
11654224	CV347145	single nucleotide variant	NM_004782.4(SNAP29):c.*240C>T	CEDNIK syndrome [RCV000315886]	uncertain significance	22	20888076	20888076	Human	1	name
11626577	CV347152	single nucleotide variant	NM_004782.4(SNAP29):c.*420A>G	CEDNIK syndrome [RCV000266039]\|not provided [RCV004712245]	benign	22	20888256	20888256	Human	1	name
11626478	CV347156	single nucleotide variant	NM_004782.4(SNAP29):c.*740C>T	CEDNIK syndrome [RCV000264040]\|not provided [RCV004712247]	benign\|likely benign	22	20888576	20888576	Human	1	name
11661616	CV347161	single nucleotide variant	NM_004782.4(SNAP29):c.*816C>T	CEDNIK syndrome [RCV000378417]	uncertain significance	22	20888652	20888652	Human	1	name
11626429	CV351164	single nucleotide variant	NM_004782.4(SNAP29):c.*519A>T	CEDNIK syndrome [RCV000263797]	uncertain significance	22	20888355	20888355	Human	1	name
11631327	CV352174	single nucleotide variant	NM_004782.4(SNAP29):c.*255G>A	CEDNIK syndrome [RCV000375091]	uncertain significance	22	20888091	20888091	Human	1	name
11628380	CV352190	single nucleotide variant	NM_004782.4(SNAP29):c.*521T>A	CEDNIK syndrome [RCV000300230]\|not provided [RCV004712246]	benign	22	20888357	20888357	Human	1	name
11626803	CV352191	single nucleotide variant	NM_004782.4(SNAP29):c.*840G>C	CEDNIK syndrome [RCV000270027]\|not provided [RCV004694661]	uncertain significance	22	20888676	20888676	Human	1	name
28874178	CV890891	single nucleotide variant	NM_004782.4(SNAP29):c.*210A>C	CEDNIK syndrome [RCV001147091]	uncertain significance	22	20888046	20888046	Human	1	name
28876248	CV890892	single nucleotide variant	NM_004782.4(SNAP29):c.*242G>A	CEDNIK syndrome [RCV001147971]	uncertain significance	22	20888078	20888078	Human	1	name
28876251	CV890893	single nucleotide variant	NM_004782.4(SNAP29):c.*267C>T	CEDNIK syndrome [RCV001147972]	uncertain significance	22	20888103	20888103	Human	1	name
28876253	CV890894	single nucleotide variant	NM_004782.4(SNAP29):c.*496C>G	CEDNIK syndrome [RCV001147973]	uncertain significance	22	20888332	20888332	Human	1	name
28876257	CV890895	single nucleotide variant	NM_004782.4(SNAP29):c.*507A>C	CEDNIK syndrome [RCV001147974]	uncertain significance	22	20888343	20888343	Human	1	name
28881131	CV890896	single nucleotide variant	NM_004782.4(SNAP29):c.*590T>C	CEDNIK syndrome [RCV001149526]	uncertain significance	22	20888426	20888426	Human	1	name
28881134	CV890897	single nucleotide variant	NM_004782.4(SNAP29):c.*624C>T	CEDNIK syndrome [RCV001149527]	uncertain significance	22	20888460	20888460	Human	1	name
28881139	CV890898	single nucleotide variant	NM_004782.4(SNAP29):c.*755A>G	CEDNIK syndrome [RCV001149528]\|not provided [RCV004712958]	benign	22	20888591	20888591	Human	1	name
28870125	CV890899	single nucleotide variant	NM_004782.4(SNAP29):c.*822C>T	CEDNIK syndrome [RCV001145227]	uncertain significance	22	20888658	20888658	Human	1	name
28870128	CV890900	single nucleotide variant	NM_004782.4(SNAP29):c.*948G>A	CEDNIK syndrome [RCV001145228]	uncertain significance	22	20888784	20888784	Human	1	name
28870132	CV890901	single nucleotide variant	NM_004782.4(SNAP29):c.*991C>A	CEDNIK syndrome [RCV001145229]	uncertain significance	22	20888827	20888827	Human	1	name
126727626	CV1018791	single nucleotide variant	NM_004782.4(SNAP29):c.435-3A>G	CEDNIK syndrome [RCV001332511]	uncertain significance	22	20881046	20881046	Human	1	name
150544835	CV1305543	single nucleotide variant	NM_004782.4(SNAP29):c.434+5G>A	not provided [RCV001774532]	uncertain significance	22	20870538	20870538	Human		name
155994104	CV2059923	single nucleotide variant	NM_004782.4(SNAP29):c.620-4G>T	not provided [RCV002819340]	likely benign	22	20887675	20887675	Human		name
155951078	CV2076384	single nucleotide variant	NM_004782.4(SNAP29):c.434+6T>G	not provided [RCV002862351]	uncertain significance	22	20870539	20870539	Human		name
155922895	CV2099400	single nucleotide variant	NM_004782.4(SNAP29):c.435-7T>C	SNAP29-related disorder [RCV003898577]\|not provided [RCV002903434]	likely benign	22	20881042	20881042	Human	1	name , trait , alternate_id
155966628	CV2142580	single nucleotide variant	NM_004782.4(SNAP29):c.521-8A>T	not provided [RCV002995419]	likely benign	22	20883463	20883463	Human		name
405095681	CV2874758	single nucleotide variant	NM_004782.4(SNAP29):c.521-9T>C	not provided [RCV003550150]	likely benign	22	20883462	20883462	Human		name
405212418	CV2878534	single nucleotide variant	NM_004782.4(SNAP29):c.238-1G>A	not provided [RCV003552726]	likely pathogenic	22	20870336	20870336	Human		name
402471148	CV2904291	single nucleotide variant	NM_004782.4(SNAP29):c.619+8T>G	not provided [RCV003570434]	likely benign	22	20883577	20883577	Human		name
402481019	CV2911074	single nucleotide variant	NM_004782.4(SNAP29):c.435-9T>C	not provided [RCV003572080]	likely benign	22	20881040	20881040	Human		name
405145475	CV2955234	single nucleotide variant	NM_004782.4(SNAP29):c.435-8A>G	not provided [RCV003673526]	likely benign	22	20881041	20881041	Human		name
405223945	CV2982758	single nucleotide variant	NM_004782.4(SNAP29):c.434+9A>G	not provided [RCV003681064]	likely benign	22	20870542	20870542	Human		name
404999156	CV3008765	single nucleotide variant	NM_004782.4(SNAP29):c.435-9T>G	not provided [RCV003692896]	likely benign	22	20881040	20881040	Human		name
405166138	CV3018874	single nucleotide variant	NM_004782.4(SNAP29):c.237+8T>C	not provided [RCV003704327]	likely benign	22	20859355	20859355	Human		name
405116280	CV3020108	single nucleotide variant	NM_004782.4(SNAP29):c.520+2T>C	not provided [RCV003700275]	likely pathogenic	22	20881136	20881136	Human		name
405072950	CV3140358	single nucleotide variant	NM_004782.4(SNAP29):c.238-6C>A	not provided [RCV003833513]	likely benign	22	20870331	20870331	Human		name
405290207	CV3221202	single nucleotide variant	NM_004782.4(SNAP29):c.520+3A>G	SNAP29-related disorder [RCV003962180]	likely benign	22	20881137	20881137	Human		name , trait , alternate_id
11619943	CV337570	single nucleotide variant	NM_004782.4(SNAP29):c.*1490T>C	CEDNIK syndrome [RCV000331061]	benign\|likely benign	22	20889326	20889326	Human	1	name
11624390	CV337575	single nucleotide variant	NM_004782.4(SNAP29):c.*1519T>C	CEDNIK syndrome [RCV000385608]\|not provided [RCV004712249]	benign	22	20889355	20889355	Human	1	name
11621665	CV337586	single nucleotide variant	NM_004782.4(SNAP29):c.*1563T>G	CEDNIK syndrome [RCV000351302]\|not provided [RCV004712250]	benign	22	20889399	20889399	Human	1	name
11622596	CV337588	single nucleotide variant	NM_004782.4(SNAP29):c.*2111G>T	CEDNIK syndrome [RCV000362425]	uncertain significance	22	20889947	20889947	Human	1	name
11623084	CV337590	single nucleotide variant	NM_004782.4(SNAP29):c.*2179G>A	CEDNIK syndrome [RCV000368373]	uncertain significance	22	20890015	20890015	Human	1	name
11618621	CV337594	single nucleotide variant	NM_004782.4(SNAP29):c.*2501G>A	CEDNIK syndrome [RCV000315780]	uncertain significance	22	20890337	20890337	Human	1	name
11620753	CV337596	single nucleotide variant	NM_004782.4(SNAP29):c.*2692C>T	CEDNIK syndrome [RCV000340321]\|not provided [RCV004712253]	benign\|likely benign	22	20890528	20890528	Human	1	name
11617670	CV337597	single nucleotide variant	NM_004782.4(SNAP29):c.*2816A>G	CEDNIK syndrome [RCV000306894]\|not provided [RCV004712254]	benign	22	20890652	20890652	Human	1	name
11625820	CV337599	single nucleotide variant	NM_004782.4(SNAP29):c.*2872G>A	CEDNIK syndrome [RCV000403610]	benign\|likely benign	22	20890708	20890708	Human	1	name
11614579	CV337602	deletion	NM_004782.4(SNAP29):c.*2944del	CEDNIK syndrome [RCV000277949]	uncertain significance	22	20890759	20890759	Human	1	name
11612516	CV337605	single nucleotide variant	NM_004782.4(SNAP29):c.*2961T>C	CEDNIK syndrome [RCV000260348]\|not provided [RCV004712256]	benign	22	20890797	20890797	Human	1	name
11632406	CV347162	single nucleotide variant	NM_004782.4(SNAP29):c.*1570T>C	CEDNIK syndrome [RCV000407668]	uncertain significance	22	20889406	20889406	Human	1	name
11626959	CV347165	single nucleotide variant	NM_004782.4(SNAP29):c.*2143G>A	CEDNIK syndrome [RCV000272693]	likely benign\|uncertain significance	22	20889979	20889979	Human	1	name
11662589	CV347166	single nucleotide variant	NM_004782.4(SNAP29):c.*2304C>T	CEDNIK syndrome [RCV000387633]	uncertain significance	22	20890140	20890140	Human	1	name
11627255	CV347172	single nucleotide variant	NM_004782.4(SNAP29):c.*2411T>C	CEDNIK syndrome [RCV000279313]	likely benign\|uncertain significance	22	20890247	20890247	Human	1	name
11631874	CV347176	single nucleotide variant	NM_004782.4(SNAP29):c.*2777G>A	CEDNIK syndrome [RCV000391389]	uncertain significance	22	20890613	20890613	Human	1	name
11630131	CV347177	single nucleotide variant	NM_004782.4(SNAP29):c.*2791T>C	CEDNIK syndrome [RCV000342023]	benign\|uncertain significance	22	20890627	20890627	Human	1	name
11661257	CV347180	single nucleotide variant	NM_004782.4(SNAP29):c.*3035C>T	CEDNIK syndrome [RCV000374791]	uncertain significance	22	20890871	20890871	Human	1	name
11645553	CV347184	single nucleotide variant	NM_004782.4(SNAP29):c.*3107C>T	CEDNIK syndrome [RCV000266221]	uncertain significance	22	20890943	20890943	Human	1	name
11631482	CV347188	single nucleotide variant	NM_004782.4(SNAP29):c.*3193G>A	CEDNIK syndrome [RCV000378484]	uncertain significance	22	20891029	20891029	Human	1	name
11628146	CV351170	single nucleotide variant	NM_004782.4(SNAP29):c.*1543A>C	CEDNIK syndrome [RCV000296403]	uncertain significance	22	20889379	20889379	Human	1	name
11629984	CV351173	single nucleotide variant	NM_004782.4(SNAP29):c.*1667G>A	CEDNIK syndrome [RCV000338355]	likely benign\|uncertain significance	22	20889503	20889503	Human	1	name
11632241	CV351174	single nucleotide variant	NM_004782.4(SNAP29):c.*1789C>A	CEDNIK syndrome [RCV000402604]	uncertain significance	22	20889625	20889625	Human	1	name
11630881	CV351177	single nucleotide variant	NM_004782.4(SNAP29):c.*2052A>T	CEDNIK syndrome [RCV000361373]	uncertain significance	22	20889888	20889888	Human	1	name
11632355	CV351179	single nucleotide variant	NM_004782.4(SNAP29):c.*2105T>G	CEDNIK syndrome [RCV000405980]\|not provided [RCV004712251]	benign\|likely benign	22	20889941	20889941	Human	1	name
11627000	CV351181	single nucleotide variant	NM_004782.4(SNAP29):c.*2261G>A	CEDNIK syndrome [RCV000273432]	uncertain significance	22	20890097	20890097	Human	1	name
11648169	CV351182	duplication	NM_004782.4(SNAP29):c.*2564dup	CEDNIK syndrome [RCV000280622]	uncertain significance	22	20890397	20890398	Human	1	name
11627695	CV351183	single nucleotide variant	NM_004782.4(SNAP29):c.*2783C>T	CEDNIK syndrome [RCV000287042]	benign\|uncertain significance	22	20890619	20890619	Human	1	name
11631019	CV351184	single nucleotide variant	NM_004782.4(SNAP29):c.*2856G>A	CEDNIK syndrome [RCV000366301]	benign\|likely benign	22	20890692	20890692	Human	1	name
11628955	CV351187	single nucleotide variant	NM_004782.4(SNAP29):c.*2879C>T	CEDNIK syndrome [RCV000312730]\|not provided [RCV004712255]	benign\|likely benign	22	20890715	20890715	Human	1	name
11660499	CV351188	single nucleotide variant	NM_004782.4(SNAP29):c.*2912G>A	CEDNIK syndrome [RCV000367808]	uncertain significance	22	20890748	20890748	Human	1	name
11629279	CV351191	single nucleotide variant	NM_004782.4(SNAP29):c.*3015G>A	CEDNIK syndrome [RCV000320178]\|not provided [RCV004712257]	benign\|likely benign	22	20890851	20890851	Human	1	name
11655161	CV351192	single nucleotide variant	NM_004782.4(SNAP29):c.*3171G>A	CEDNIK syndrome [RCV000323821]	uncertain significance	22	20891007	20891007	Human	1	name
11627806	CV351193	single nucleotide variant	NM_004782.4(SNAP29):c.*3252T>G	CEDNIK syndrome [RCV000288728]	likely benign\|uncertain significance	22	20891088	20891088	Human	1	name
11629511	CV352193	single nucleotide variant	NM_004782.4(SNAP29):c.*1061C>T	CEDNIK syndrome [RCV000325040]	uncertain significance	22	20888897	20888897	Human	1	name
11631637	CV352195	single nucleotide variant	NM_004782.4(SNAP29):c.*1129T>C	CEDNIK syndrome [RCV000384409]\|not provided [RCV004712248]	benign	22	20888965	20888965	Human	1	name
11627827	CV352197	single nucleotide variant	NM_004782.4(SNAP29):c.*1315C>G	CEDNIK syndrome [RCV000290048]	uncertain significance	22	20889151	20889151	Human	1	name
11627273	CV352208	single nucleotide variant	NM_004782.4(SNAP29):c.*1589T>C	CEDNIK syndrome [RCV000278730]	uncertain significance	22	20889425	20889425	Human	1	name
11628436	CV352210	single nucleotide variant	NM_004782.4(SNAP29):c.*2028G>A	CEDNIK syndrome [RCV000302015]	uncertain significance	22	20889864	20889864	Human	1	name
11652906	CV352211	duplication	NM_004782.4(SNAP29):c.*2121dup	CEDNIK syndrome [RCV000307962]	uncertain significance	22	20889947	20889948	Human	1	name
11655690	CV352212	single nucleotide variant	NM_004782.4(SNAP29):c.*2168A>C	CEDNIK syndrome [RCV000327756]	uncertain significance	22	20890004	20890004	Human	1	name
11629802	CV352213	single nucleotide variant	NM_004782.4(SNAP29):c.*2261G>T	CEDNIK syndrome [RCV000333262]\|not provided [RCV004712252]	benign	22	20890097	20890097	Human	1	name
11631325	CV352214	single nucleotide variant	NM_004782.4(SNAP29):c.*2551G>A	CEDNIK syndrome [RCV000375019]	benign\|uncertain significance	22	20890387	20890387	Human	1	name
11631873	CV352215	single nucleotide variant	NM_004782.4(SNAP29):c.*2795C>T	CEDNIK syndrome [RCV000391387]	benign\|likely benign	22	20890631	20890631	Human	1	name
597667763	CV3727019	single nucleotide variant	NM_004782.4(SNAP29):c.620-1G>C	CEDNIK syndrome [RCV005029272]	likely pathogenic	22	20887678	20887678	Human	1	name
597949385	CV3772335	single nucleotide variant	NM_004782.4(SNAP29):c.521-4T>G	not provided [RCV005120654]	likely benign	22	20883467	20883467	Human		name
15136102	CV760747	single nucleotide variant	NM_004782.4(SNAP29):c.620-7C>G	not provided [RCV000920959]	likely benign	22	20887672	20887672	Human		name
28870136	CV890902	single nucleotide variant	NM_004782.4(SNAP29):c.*1174C>T	CEDNIK syndrome [RCV001145230]	uncertain significance	22	20889010	20889010	Human	1	name
28874403	CV890903	single nucleotide variant	NM_004782.4(SNAP29):c.*1437T>C	CEDNIK syndrome [RCV001147198]	uncertain significance	22	20889273	20889273	Human	1	name
28874406	CV890904	single nucleotide variant	NM_004782.4(SNAP29):c.*1438G>A	CEDNIK syndrome [RCV001147199]	uncertain significance	22	20889274	20889274	Human	1	name
28876575	CV890905	single nucleotide variant	NM_004782.4(SNAP29):c.*1675C>T	CEDNIK syndrome [RCV001148083]	uncertain significance	22	20889511	20889511	Human	1	name
28876580	CV890906	single nucleotide variant	NM_004782.4(SNAP29):c.*1874A>C	CEDNIK syndrome [RCV001148084]	uncertain significance	22	20889710	20889710	Human	1	name
28876582	CV890907	single nucleotide variant	NM_004782.4(SNAP29):c.*2039T>G	CEDNIK syndrome [RCV001148085]	uncertain significance	22	20889875	20889875	Human	1	name
28881484	CV890908	single nucleotide variant	NM_004782.4(SNAP29):c.*2059C>T	CEDNIK syndrome [RCV001149641]	uncertain significance	22	20889895	20889895	Human	1	name
28881490	CV890909	single nucleotide variant	NM_004782.4(SNAP29):c.*2171T>C	CEDNIK syndrome [RCV001149642]	uncertain significance	22	20890007	20890007	Human	1	name
28870358	CV890910	single nucleotide variant	NM_004782.4(SNAP29):c.*2277C>T	CEDNIK syndrome [RCV001145330]\|not provided [RCV003438678]	benign\|likely benign	22	20890113	20890113	Human	1	name
28870361	CV890911	single nucleotide variant	NM_004782.4(SNAP29):c.*2280G>A	CEDNIK syndrome [RCV001145331]	uncertain significance	22	20890116	20890116	Human	1	name
28870364	CV890912	single nucleotide variant	NM_004782.4(SNAP29):c.*2364A>G	CEDNIK syndrome [RCV001145332]	uncertain significance	22	20890200	20890200	Human	1	name
28870366	CV890913	single nucleotide variant	NM_004782.4(SNAP29):c.*2412C>T	CEDNIK syndrome [RCV001145333]	uncertain significance	22	20890248	20890248	Human	1	name
28870368	CV890914	single nucleotide variant	NM_004782.4(SNAP29):c.*2484G>C	CEDNIK syndrome [RCV001145334]	uncertain significance	22	20890320	20890320	Human	1	name
28874598	CV890915	single nucleotide variant	NM_004782.4(SNAP29):c.*2678T>C	CEDNIK syndrome [RCV001147279]	uncertain significance	22	20890514	20890514	Human	1	name
28874601	CV890916	single nucleotide variant	NM_004782.4(SNAP29):c.*2712G>A	CEDNIK syndrome [RCV001147280]	uncertain significance	22	20890548	20890548	Human	1	name
28874603	CV890917	single nucleotide variant	NM_004782.4(SNAP29):c.*2738G>A	CEDNIK syndrome [RCV001147281]	uncertain significance	22	20890574	20890574	Human	1	name
28874605	CV890918	single nucleotide variant	NM_004782.4(SNAP29):c.*2749A>G	CEDNIK syndrome [RCV001147282]	uncertain significance	22	20890585	20890585	Human	1	name
28876889	CV890919	single nucleotide variant	NM_004782.4(SNAP29):c.*2796G>A	CEDNIK syndrome [RCV001148182]	benign	22	20890632	20890632	Human	1	name
28876893	CV890920	single nucleotide variant	NM_004782.4(SNAP29):c.*2868A>G	CEDNIK syndrome [RCV001148183]	uncertain significance	22	20890704	20890704	Human	1	name
28882523	CV890921	single nucleotide variant	NM_004782.4(SNAP29):c.*2892C>T	CEDNIK syndrome [RCV001149969]\|not provided [RCV004712959]	benign	22	20890728	20890728	Human	1	name
28882526	CV890922	single nucleotide variant	NM_004782.4(SNAP29):c.*2944A>G	CEDNIK syndrome [RCV001149970]	uncertain significance	22	20890780	20890780	Human	1	name
28882532	CV890923	single nucleotide variant	NM_004782.4(SNAP29):c.*3014C>T	CEDNIK syndrome [RCV001149971]\|not provided [RCV004694931]	uncertain significance	22	20890850	20890850	Human	1	name
28903050	CV890924	single nucleotide variant	NM_004782.4(SNAP29):c.*3156G>A	CEDNIK syndrome [RCV001143850]	uncertain significance	22	20890992	20890992	Human	1	name
28903052	CV890925	single nucleotide variant	NM_004782.4(SNAP29):c.*3233A>G	CEDNIK syndrome [RCV001143851]	uncertain significance	22	20891069	20891069	Human	1	name
28903054	CV890926	single nucleotide variant	NM_004782.4(SNAP29):c.*3246A>G	CEDNIK syndrome [RCV001143852]	likely benign	22	20891082	20891082	Human	1	name
28871226	CV890927	single nucleotide variant	NM_004782.4(SNAP29):c.*3268T>C	CEDNIK syndrome [RCV001145747]	uncertain significance	22	20891104	20891104	Human	1	name
28871229	CV890928	single nucleotide variant	NM_004782.4(SNAP29):c.*3283T>G	CEDNIK syndrome [RCV001145748]	uncertain significance	22	20891119	20891119	Human	1	name
28871231	CV890929	single nucleotide variant	NM_004782.4(SNAP29):c.*3284G>T	CEDNIK syndrome [RCV001145749]	uncertain significance	22	20891120	20891120	Human	1	name
28871233	CV890930	single nucleotide variant	NM_004782.4(SNAP29):c.*3285G>T	CEDNIK syndrome [RCV001145750]	likely benign	22	20891121	20891121	Human	1	name
28869909	CV891809	single nucleotide variant	NM_004782.4(SNAP29):c.620-6C>G	CEDNIK syndrome [RCV001145131]\|not provided [RCV003769698]	likely benign\|uncertain significance	22	20887673	20887673	Human	1	name
28869912	CV891810	single nucleotide variant	NM_004782.4(SNAP29):c.620-4G>A	CEDNIK syndrome [RCV001145132]\|Inborn genetic diseases [RCV002557109]\|not provided [RCV002070752]	likely benign\|uncertain significance	22	20887675	20887675	Human	2	name
40889963	CV975573	single nucleotide variant	NM_004782.4(SNAP29):c.238-2A>G	not provided [RCV001268503]	likely pathogenic	22	20870335	20870335	Human		name
150482271	CV1261594	single nucleotide variant	NM_004782.4(SNAP29):c.238-44G>A	not provided [RCV001686197]	benign	22	20870293	20870293	Human		name
156077737	CV1952759	single nucleotide variant	NM_004782.4(SNAP29):c.620-13C>T	not provided [RCV002569806]	likely benign	22	20887666	20887666	Human		name
156284750	CV1964533	single nucleotide variant	NM_004782.4(SNAP29):c.520+10T>C	not provided [RCV002577596]	likely benign	22	20881144	20881144	Human		name
155932577	CV2035159	single nucleotide variant	NM_004782.4(SNAP29):c.237+10G>A	not provided [RCV002751242]	likely benign	22	20859357	20859357	Human		name
156332298	CV2075909	single nucleotide variant	NM_004782.4(SNAP29):c.434+10T>A	not provided [RCV002835366]	likely benign	22	20870543	20870543	Human		name
156354028	CV2190678	single nucleotide variant	NM_004782.4(SNAP29):c.434+14C>G	not provided [RCV003048548]	likely benign	22	20870547	20870547	Human		name
405110147	CV2898925	single nucleotide variant	NM_004782.4(SNAP29):c.434+14C>T	not provided [RCV003557761]	likely benign	22	20870547	20870547	Human		name
402470623	CV2928003	single nucleotide variant	NM_004782.4(SNAP29):c.435-17T>C	not provided [RCV003570334]	likely benign	22	20881032	20881032	Human		name
405069985	CV2936872	single nucleotide variant	NM_004782.4(SNAP29):c.238-14C>T	not provided [RCV003659284]	likely benign	22	20870323	20870323	Human		name
402482039	CV2940703	single nucleotide variant	NM_004782.4(SNAP29):c.238-20C>G	not provided [RCV003659653]	likely benign	22	20870317	20870317	Human		name
405247954	CV2980736	single nucleotide variant	NM_004782.4(SNAP29):c.237+17G>A	not provided [RCV003720966]	likely benign	22	20859364	20859364	Human		name
405116822	CV2996563	single nucleotide variant	NM_004782.4(SNAP29):c.521-13C>T	not provided [RCV003723391]	likely benign	22	20883458	20883458	Human		name
405131075	CV3011113	single nucleotide variant	NM_004782.4(SNAP29):c.237+11G>A	not provided [RCV003701703]	likely benign	22	20859358	20859358	Human		name
405135555	CV3018289	single nucleotide variant	NM_004782.4(SNAP29):c.434+20T>G	not provided [RCV003701884]	likely benign	22	20870553	20870553	Human		name
405094857	CV3022789	single nucleotide variant	NM_004782.4(SNAP29):c.520+19G>A	not provided [RCV003699980]	likely benign	22	20881153	20881153	Human		name
405136198	CV3028663	single nucleotide variant	NM_004782.4(SNAP29):c.434+19A>G	not provided [RCV003702122]	likely benign	22	20870552	20870552	Human		name
405049603	CV3028971	single nucleotide variant	NM_004782.4(SNAP29):c.435-18G>A	not provided [RCV003696800]	likely benign	22	20881031	20881031	Human		name
405196016	CV3128671	single nucleotide variant	NM_004782.4(SNAP29):c.238-14C>G	not provided [RCV003821409]	likely benign	22	20870323	20870323	Human		name
405058551	CV3134947	single nucleotide variant	NM_004782.4(SNAP29):c.237+14A>G	not provided [RCV003832619]	likely benign	22	20859361	20859361	Human		name
405073556	CV3145421	single nucleotide variant	NM_004782.4(SNAP29):c.238-13T>A	not provided [RCV003851006]	likely benign	22	20870324	20870324	Human		name
405232217	CV3157542	single nucleotide variant	NM_004782.4(SNAP29):c.237+13C>T	not provided [RCV003865492]	likely benign	22	20859360	20859360	Human		name
405219876	CV3161425	single nucleotide variant	NM_004782.4(SNAP29):c.619+17C>T	not provided [RCV003863294]	likely benign	22	20883586	20883586	Human		name
597940707	CV3819108	single nucleotide variant	NM_004782.4(SNAP29):c.237+12G>A	not provided [RCV005158919]	likely benign	22	20859359	20859359	Human		name
15155781	CV731398	single nucleotide variant	NM_004782.4(SNAP29):c.620-10C>T	not provided [RCV000880487]	likely benign	22	20887669	20887669	Human		name
28880760	CV891806	single nucleotide variant	NM_004782.4(SNAP29):c.237+10G>T	CEDNIK syndrome [RCV001149419]	uncertain significance	22	20859357	20859357	Human	1	name
28880765	CV891807	single nucleotide variant	NM_004782.4(SNAP29):c.238-12C>T	CEDNIK syndrome [RCV001149420]\|not provided [RCV003769715]	likely benign\|uncertain significance	22	20870325	20870325	Human	1	name
28869904	CV891808	single nucleotide variant	NM_004782.4(SNAP29):c.520+14T>C	CEDNIK syndrome [RCV001145129]	uncertain significance	22	20881148	20881148	Human	1	name
150411658	CV1178574	single nucleotide variant	NM_004782.4(SNAP29):c.520+214C>G	not provided [RCV001547251]	likely benign	22	20881348	20881348	Human		name
150437497	CV1262316	deletion	NM_004782.4(SNAP29):c.620-113del	not provided [RCV001678674]	benign	22	20887566	20887566	Human		name
150493824	CV1267226	single nucleotide variant	NM_004782.4(SNAP29):c.238-291G>A	not provided [RCV001688254]	benign	22	20870046	20870046	Human		name
150489779	CV1267502	single nucleotide variant	NM_004782.4(SNAP29):c.620-113T>C	not provided [RCV001687526]	benign	22	20887566	20887566	Human		name
11657982	CV337559	microsatellite	NM_004782.4(SNAP29):c.*477AC[21]	CEDNIK syndrome [RCV000345437]	uncertain significance	22	20888312	20888313	Human		name
11661916	CV351163	microsatellite	NM_004782.4(SNAP29):c.*477AC[20]	CEDNIK syndrome [RCV000381344]	uncertain significance	22	20888312	20888315	Human		name
11635681	CV351169	microsatellite	NM_004782.4(SNAP29):c.*477AC[23]	CEDNIK syndrome [RCV000380452]	uncertain significance	22	20888311	20888312	Human		name
11662390	CV352156	deletion	NM_004782.4(SNAP29):c.-70_-69del	CEDNIK syndrome [RCV000385693]	uncertain significance	22	20859040	20859041	Human	1	name
11627615	CV352175	microsatellite	NM_004782.4(SNAP29):c.*477AC[24]	CEDNIK syndrome [RCV000285871]\|not provided [RCV004694656]	uncertain significance	22	20888311	20888312	Human		name
150531254	CV1291037	microsatellite	NM_004782.4(SNAP29):c.620-210AC[9]	not provided [RCV001732981]	likely benign	22	20887468	20887469	Human		name
11664553	CV347153	deletion	NM_004782.4(SNAP29):c.513_522del	CEDNIK syndrome [RCV000407016]	uncertain significance	22	20888348	20888357	Human	1	name
11650227	CV351161	deletion	NM_004782.4(SNAP29):c.505_522del	CEDNIK syndrome [RCV000291552]\|not provided [RCV004694657]	uncertain significance	22	20888340	20888357	Human	1	name
11628919	CV351162	deletion	NM_004782.4(SNAP29):c.515_522del	CEDNIK syndrome [RCV000311933]\|not provided [RCV004694658]	uncertain significance	22	20888350	20888357	Human	1	name
11628280	CV352176	deletion	NM_004782.4(SNAP29):c.517_522del	CEDNIK syndrome [RCV000298898]\|not provided [RCV004694659]	uncertain significance	22	20888352	20888357	Human	1	name
11630584	CV352189	deletion	NM_004782.4(SNAP29):c.519_522del	CEDNIK syndrome [RCV000353804]\|not provided [RCV004694660]	uncertain significance	22	20888354	20888357	Human	1	name
11615150	CV337551	single nucleotide variant	NM_004782.4(SNAP29):c.6A>G (p.Ser2=)	CEDNIK syndrome [RCV000283266]\|not provided [RCV003678995]	likely benign\|uncertain significance	22	20859116	20859116	Human	1	name
11656396	CV337600	deletion	NM_004782.4(SNAP29):c.2937_2944del	CEDNIK syndrome [RCV000333048]\|not provided [RCV004694662]	uncertain significance	22	20890759	20890766	Human	1	name
152042397	CV1537969	single nucleotide variant	NM_004782.4(SNAP29):c.15T>G (p.Pro5=)	not provided [RCV002165860]	likely benign	22	20859125	20859125	Human		name
405070330	CV3031071	single nucleotide variant	NM_004782.4(SNAP29):c.12C>T (p.Tyr4=)	not provided [RCV003698226]	likely benign	22	20859122	20859122	Human		name
11620960	CV337552	single nucleotide variant	NM_004782.4(SNAP29):c.18A>G (p.Lys6=)	CEDNIK syndrome [RCV000342922]\|not provided [RCV000713380]\|not specified [RCV000444231]	benign\|no classifications from unflagged records	22	20859128	20859128	Human	1	name
156393060	CV1983344	single nucleotide variant	NM_004782.4(SNAP29):c.60C>T (p.Ala20=)	not provided [RCV002604851]	likely benign	22	20859170	20859170	Human		name
11632722	CV264773	single nucleotide variant	NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	CEDNIK syndrome [RCV002251740]\|Hypomyelinating leukodystrophy 2 [RCV000454300]\|not provided [RCV000280099]	pathogenic\|likely pathogenic	22	20859112	20859112	Human	2	name
405194353	CV2985797	single nucleotide variant	NM_004782.4(SNAP29):c.39C>T (p.Asp13=)	not provided [RCV003706683]	likely benign	22	20859149	20859149	Human		name
405225565	CV3058478	single nucleotide variant	NM_004782.4(SNAP29):c.96C>T (p.Pro32=)	not provided [RCV003733981]	likely benign	22	20859206	20859206	Human		name
405138360	CV3144700	single nucleotide variant	NM_004782.4(SNAP29):c.66G>A (p.Pro22=)	not provided [RCV003855217]	likely benign	22	20859176	20859176	Human		name
405204075	CV3165189	single nucleotide variant	NM_004782.4(SNAP29):c.45G>A (p.Gly15=)	not provided [RCV003861050]	likely benign	22	20859155	20859155	Human		name
11654832	CV351157	indel	NM_004782.4(SNAP29):c.472_483delinsT	CEDNIK syndrome [RCV000321150]	uncertain significance	22	20888308	20888319	Human		name
15170823	CV729047	single nucleotide variant	NM_004782.4(SNAP29):c.36C>T (p.Asp12=)	not provided [RCV000883541]	likely benign	22	20859146	20859146	Human		name
15192026	CV742770	single nucleotide variant	NM_004782.4(SNAP29):c.72T>A (p.Pro24=)	CEDNIK syndrome [RCV001147877]\|SNAP29-related disorder [RCV003923138]\|not provided [RCV000910417]	benign	22	20859182	20859182	Human	1	name , trait , alternate_id
127286931	CV1152915	single nucleotide variant	NM_004782.4(SNAP29):c.16A>G (p.Lys6Glu)	not provided [RCV001507492]	uncertain significance	22	20859126	20859126	Human		name
127286933	CV1152916	single nucleotide variant	NM_004782.4(SNAP29):c.22T>C (p.Tyr8His)	not provided [RCV001507493]	uncertain significance	22	20859132	20859132	Human		name
152105716	CV1536803	single nucleotide variant	NM_004782.4(SNAP29):c.174C>A (p.Ala58=)	not provided [RCV002173688]	likely benign	22	20859284	20859284	Human		name
156395731	CV1980407	single nucleotide variant	NM_004782.4(SNAP29):c.136C>A (p.Arg46=)	not provided [RCV002605114]	likely benign	22	20859246	20859246	Human		name
156114589	CV1985880	single nucleotide variant	NM_004782.4(SNAP29):c.144G>A (p.Glu48=)	not provided [RCV002622711]	likely benign	22	20859254	20859254	Human		name
156115499	CV2046550	single nucleotide variant	NM_004782.4(SNAP29):c.26A>G (p.Asn9Ser)	Inborn genetic diseases [RCV002800012]\|not provided [RCV002770302]	uncertain significance	22	20859136	20859136	Human	1	name
156335927	CV2099502	single nucleotide variant	NM_004782.4(SNAP29):c.153C>G (p.Arg51=)	not provided [RCV002900201]	likely benign	22	20859263	20859263	Human		name
156296392	CV2179499	single nucleotide variant	NM_004782.4(SNAP29):c.20G>A (p.Ser7Asn)	not provided [RCV003027892]	uncertain significance	22	20859130	20859130	Human		name
156209331	CV2298199	single nucleotide variant	NM_004782.4(SNAP29):c.11A>G (p.Tyr4Cys)	Inborn genetic diseases [RCV002875351]	uncertain significance	22	20859121	20859121	Human	1	name
401894997	CV2792664	single nucleotide variant	NM_004782.4(SNAP29):c.14C>G (p.Pro5Arg)	Inborn genetic diseases [RCV003372062]	uncertain significance	22	20859124	20859124	Human	1	name
402515186	CV2855674	single nucleotide variant	NM_004782.4(SNAP29):c.165C>T (p.Ala55=)	not provided [RCV003547343]	likely benign	22	20859275	20859275	Human		name
405205644	CV2916137	single nucleotide variant	NM_004782.4(SNAP29):c.261C>T (p.Val87=)	not provided [RCV003566385]	likely benign	22	20870360	20870360	Human		name
402516162	CV2936397	single nucleotide variant	NM_004782.4(SNAP29):c.159T>G (p.Ala53=)	not provided [RCV003662966]	likely benign	22	20859269	20859269	Human		name
405065053	CV2937166	single nucleotide variant	NM_004782.4(SNAP29):c.102G>T (p.Gly34=)	not provided [RCV003663632]	likely benign	22	20859212	20859212	Human		name
405240850	CV2974053	single nucleotide variant	NM_004782.4(SNAP29):c.198C>G (p.Leu66=)	not provided [RCV003684037]	likely benign	22	20859308	20859308	Human		name
402496176	CV2988654	single nucleotide variant	NM_004782.4(SNAP29):c.159T>A (p.Ala53=)	not provided [RCV003714280]	likely benign	22	20859269	20859269	Human		name
402481415	CV3041536	single nucleotide variant	NM_004782.4(SNAP29):c.133T>C (p.Leu45=)	not provided [RCV003712843]	likely benign	22	20859243	20859243	Human		name
405179166	CV3056511	single nucleotide variant	NM_004782.4(SNAP29):c.243C>T (p.Leu81=)	not provided [RCV003728553]	likely benign	22	20870342	20870342	Human		name
405157133	CV3065064	single nucleotide variant	NM_004782.4(SNAP29):c.180C>T (p.Thr60=)	not provided [RCV003726838]	likely benign	22	20859290	20859290	Human		name
405013656	CV3128242	single nucleotide variant	NM_004782.4(SNAP29):c.190C>T (p.Leu64=)	not provided [RCV003829122]	likely benign	22	20859300	20859300	Human		name
405200441	CV3128918	single nucleotide variant	NM_004782.4(SNAP29):c.111G>T (p.Ala37=)	not provided [RCV003821961]	likely benign	22	20859221	20859221	Human		name
405019784	CV3129163	single nucleotide variant	NM_004782.4(SNAP29):c.171C>T (p.Ala57=)	not provided [RCV003829726]	likely benign	22	20859281	20859281	Human		name
405059684	CV3129448	single nucleotide variant	NM_004782.4(SNAP29):c.105C>T (p.Pro35=)	not provided [RCV003832717]	likely benign	22	20859215	20859215	Human		name
405135897	CV3130583	single nucleotide variant	NM_004782.4(SNAP29):c.141G>A (p.Gln47=)	not provided [RCV003838816]	likely benign	22	20859251	20859251	Human		name
405022830	CV3139304	single nucleotide variant	NM_004782.4(SNAP29):c.105C>G (p.Pro35=)	not provided [RCV003829947]	likely benign	22	20859215	20859215	Human		name
405075093	CV3140716	single nucleotide variant	NM_004782.4(SNAP29):c.234C>T (p.Ser78=)	not provided [RCV003833679]	likely benign	22	20859344	20859344	Human		name
405062480	CV3148355	single nucleotide variant	NM_004782.4(SNAP29):c.279G>A (p.Lys93=)	not provided [RCV003850311]	likely benign	22	20870378	20870378	Human		name
405061936	CV3148383	single nucleotide variant	NM_004782.4(SNAP29):c.198C>T (p.Leu66=)	not provided [RCV003850339]	likely benign	22	20859308	20859308	Human		name
405150171	CV3152199	single nucleotide variant	NM_004782.4(SNAP29):c.285G>A (p.Val95=)	not provided [RCV003856170]	likely benign	22	20870384	20870384	Human		name
11628704	CV347128	single nucleotide variant	NM_004782.4(SNAP29):c.234C>G (p.Ser78=)	CEDNIK syndrome [RCV000307751]\|not provided [RCV000884370]\|not specified [RCV000518801]	benign\|likely benign\|uncertain significance	22	20859344	20859344	Human	1	name
11630227	CV352173	single nucleotide variant	NM_004782.4(SNAP29):c.240G>A (p.Glu80=)	CEDNIK syndrome [RCV000343944]\|not provided [RCV003765975]	likely benign\|uncertain significance	22	20870339	20870339	Human	1	name
597836279	CV3828400	single nucleotide variant	NM_004782.4(SNAP29):c.222G>A (p.Gly74=)	not provided [RCV005171292]	likely benign	22	20859332	20859332	Human		name
127286935	CV1152917	single nucleotide variant	NM_004782.4(SNAP29):c.51C>G (p.Asp17Glu)	Inborn genetic diseases [RCV002564198]\|not provided [RCV001507494]	uncertain significance	22	20859161	20859161	Human	1	name
127286936	CV1152918	single nucleotide variant	NM_004782.4(SNAP29):c.58G>C (p.Ala20Pro)	Inborn genetic diseases [RCV004037870]\|not provided [RCV001507495]	uncertain significance	22	20859168	20859168	Human	1	name
150406537	CV1195610	single nucleotide variant	NM_004782.4(SNAP29):c.91C>T (p.Leu31Phe)	not provided [RCV001572046]	uncertain significance	22	20859201	20859201	Human		name
151752088	CV1370461	single nucleotide variant	NM_004782.4(SNAP29):c.48G>T (p.Glu16Asp)	not provided [RCV001894436]	uncertain significance	22	20859158	20859158	Human		name
151743801	CV1404552	single nucleotide variant	NM_004782.4(SNAP29):c.80A>T (p.Asp27Val)	not provided [RCV002022593]	uncertain significance	22	20859190	20859190	Human		name
151730601	CV1517891	single nucleotide variant	NM_004782.4(SNAP29):c.37G>T (p.Asp13Tyr)	CEDNIK syndrome [RCV002052433]	uncertain significance	22	20859147	20859147	Human	1	name
156434463	CV1940049	single nucleotide variant	NM_004782.4(SNAP29):c.661C>T (p.Leu221=)	not provided [RCV003104464]	likely benign	22	20887720	20887720	Human		name
156301907	CV1955618	single nucleotide variant	NM_004782.4(SNAP29):c.81C>G (p.Asp27Glu)	not provided [RCV002578263]	uncertain significance	22	20859191	20859191	Human		name
156333325	CV1966667	single nucleotide variant	NM_004782.4(SNAP29):c.660C>T (p.Ala220=)	not provided [RCV002600910]	likely benign	22	20887719	20887719	Human		name
156228590	CV1991690	single nucleotide variant	NM_004782.4(SNAP29):c.71C>T (p.Pro24Leu)	not provided [RCV002626709]	uncertain significance	22	20859181	20859181	Human		name
156120731	CV2039507	single nucleotide variant	NM_004782.4(SNAP29):c.399A>G (p.Glu133=)	not provided [RCV002800215]	likely benign	22	20870498	20870498	Human		name
156116296	CV2182952	single nucleotide variant	NM_004782.4(SNAP29):c.300A>G (p.Gln100=)	not provided [RCV003039139]	likely benign	22	20870399	20870399	Human		name
11051580	CV226728	deletion	NM_004782.4(SNAP29):c.223del (p.Val75fs)	CEDNIK syndrome [RCV000210470]	pathogenic\|likely pathogenic	22	20859330	20859330	Human	1	name
11577937	CV264774	single nucleotide variant	NM_004782.4(SNAP29):c.85C>T (p.Arg29Ter)	not provided [RCV000270606]	pathogenic	22	20859195	20859195	Human		name
401925937	CV2821985	single nucleotide variant	NM_004782.4(SNAP29):c.375C>A (p.Ser125=)	not provided [RCV003437495]	likely benign	22	20870474	20870474	Human		name
401925939	CV2821986	single nucleotide variant	NM_004782.4(SNAP29):c.384A>G (p.Val128=)	not provided [RCV003437496]	likely benign	22	20870483	20870483	Human		name
405191183	CV2871371	single nucleotide variant	NM_004782.4(SNAP29):c.426C>G (p.Pro142=)	not provided [RCV003550389]	likely benign	22	20870525	20870525	Human		name
405178914	CV2913004	single nucleotide variant	NM_004782.4(SNAP29):c.306G>A (p.Leu102=)	not provided [RCV003563709]	likely benign	22	20870405	20870405	Human		name
405189842	CV2924600	deletion	NM_004782.4(SNAP29):c.234del (p.Glu79fs)	not provided [RCV003564805]	pathogenic	22	20859343	20859343	Human		name
405194184	CV2925432	single nucleotide variant	NM_004782.4(SNAP29):c.345G>A (p.Val115=)	not provided [RCV003565065]	likely benign	22	20870444	20870444	Human		name
405036359	CV2932744	single nucleotide variant	NM_004782.4(SNAP29):c.516T>C (p.Asp172=)	not provided [RCV003578734]	likely benign	22	20881130	20881130	Human		name
402505499	CV2933555	single nucleotide variant	NM_004782.4(SNAP29):c.603G>A (p.Lys201=)	not provided [RCV003574309]	likely benign	22	20883553	20883553	Human		name
405137104	CV2958151	single nucleotide variant	NM_004782.4(SNAP29):c.453T>C (p.Ser151=)	not provided [RCV003672845]	likely benign	22	20881067	20881067	Human		name
405164369	CV2960533	single nucleotide variant	NM_004782.4(SNAP29):c.354G>T (p.Gly118=)	not provided [RCV003674856]	likely benign	22	20870453	20870453	Human		name
405017485	CV2991648	single nucleotide variant	NM_004782.4(SNAP29):c.558T>C (p.Thr186=)	not provided [RCV003694459]	likely benign	22	20883508	20883508	Human		name
402492933	CV3008248	single nucleotide variant	NM_004782.4(SNAP29):c.564T>C (p.Ala188=)	not provided [RCV003687638]	likely benign	22	20883514	20883514	Human		name
405167460	CV3018974	single nucleotide variant	NM_004782.4(SNAP29):c.768A>T (p.Arg256=)	not provided [RCV003704377]	likely benign	22	20887827	20887827	Human		name
405171566	CV3025772	single nucleotide variant	NM_004782.4(SNAP29):c.549C>T (p.Ala183=)	not provided [RCV003704656]	likely benign	22	20883499	20883499	Human		name
405143403	CV3027194	deletion	NM_004782.4(SNAP29):c.108del (p.Asp36fs)	not provided [RCV003702716]	pathogenic	22	20859218	20859218	Human		name
405139136	CV3028904	single nucleotide variant	NM_004782.4(SNAP29):c.438G>A (p.Leu146=)	not provided [RCV003702214]	likely benign	22	20881052	20881052	Human		name
405218199	CV3048931	single nucleotide variant	NM_004782.4(SNAP29):c.606C>A (p.Ile202=)	not provided [RCV003732881]	likely benign	22	20883556	20883556	Human		name
405244079	CV3053935	single nucleotide variant	NM_004782.4(SNAP29):c.414C>T (p.Leu138=)	not provided [RCV003719829]	likely benign	22	20870513	20870513	Human		name
405208322	CV3117092	single nucleotide variant	NM_004782.4(SNAP29):c.642T>C (p.Gly214=)	not provided [RCV003822879]	likely benign	22	20887701	20887701	Human		name
405182470	CV3120009	single nucleotide variant	NM_004782.4(SNAP29):c.597C>T (p.His199=)	not provided [RCV003820102]	likely benign	22	20883547	20883547	Human		name
405121356	CV3131508	single nucleotide variant	NM_004782.4(SNAP29):c.666G>A (p.Gly222=)	not provided [RCV003837372]	likely benign	22	20887725	20887725	Human		name
404995656	CV3132589	single nucleotide variant	NM_004782.4(SNAP29):c.405T>C (p.Asn135=)	not provided [RCV003827528]	likely benign	22	20870504	20870504	Human		name
405206722	CV3161952	single nucleotide variant	NM_004782.4(SNAP29):c.468G>A (p.Gln156=)	not provided [RCV003861446]	likely benign	22	20881082	20881082	Human		name
405194461	CV3167597	single nucleotide variant	NM_004782.4(SNAP29):c.771A>G (p.Gln257=)	not provided [RCV003860003]	likely benign	22	20887830	20887830	Human		name
405194526	CV3167609	single nucleotide variant	NM_004782.4(SNAP29):c.705C>T (p.Asp235=)	not provided [RCV003860015]	likely benign	22	20887764	20887764	Human		name
402464158	CV3172543	single nucleotide variant	NM_004782.4(SNAP29):c.354G>A (p.Gly118=)	not provided [RCV003872481]	likely benign	22	20870453	20870453	Human		name
405230923	CV3180929	single nucleotide variant	NM_004782.4(SNAP29):c.354G>C (p.Gly118=)	not provided [RCV003865167]	likely benign	22	20870453	20870453	Human		name
402509365	CV3182088	single nucleotide variant	NM_004782.4(SNAP29):c.436T>C (p.Leu146=)	not provided [RCV003878741]	likely benign	22	20881050	20881050	Human		name
597914827	CV3740624	single nucleotide variant	NM_004782.4(SNAP29):c.44G>A (p.Gly15Glu)	not provided [RCV005073961]	uncertain significance	22	20859154	20859154	Human		name
597864608	CV3814246	single nucleotide variant	NM_004782.4(SNAP29):c.723G>A (p.Val241=)	not provided [RCV005147315]	likely benign	22	20887782	20887782	Human		name
598170837	CV3915329	single nucleotide variant	NM_004782.4(SNAP29):c.97G>C (p.Asp33His)	Inborn genetic diseases [RCV005284696]	uncertain significance	22	20859207	20859207	Human	1	name
598170847	CV3915332	single nucleotide variant	NM_004782.4(SNAP29):c.40G>C (p.Asp14His)	Inborn genetic diseases [RCV005284699]	uncertain significance	22	20859150	20859150	Human	1	name
616934196	CV4012183	single nucleotide variant	NM_004782.4(SNAP29):c.85C>G (p.Arg29Gly)	not specified [RCV005409217]	uncertain significance	22	20859195	20859195	Human		name
15147273	CV742771	single nucleotide variant	NM_004782.4(SNAP29):c.375C>T (p.Ser125=)	not provided [RCV000900484]	likely benign	22	20870474	20870474	Human		name
8637570	CV92796	single nucleotide variant	NM_004782.3(SNAP29):c.606C>T (p.Ile202=)	Malignant melanoma [RCV000072894]	not provided	22	20883556	20883556	Human		name
127286938	CV1152919	single nucleotide variant	NM_004782.4(SNAP29):c.145G>A (p.Val49Ile)	not provided [RCV001507496]	uncertain significance	22	20859255	20859255	Human		name
150549531	CV1295300	single nucleotide variant	NM_004782.4(SNAP29):c.280A>T (p.Met94Leu)	not provided [RCV001765200]	uncertain significance	22	20870379	20870379	Human		name
150554840	CV1304584	single nucleotide variant	NM_004782.4(SNAP29):c.122G>A (p.Arg41Lys)	Inborn genetic diseases [RCV002544145]\|not provided [RCV001771554]	uncertain significance	22	20859232	20859232	Human	1	name
151351370	CV1323519	single nucleotide variant	NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)	CEDNIK syndrome [RCV001806375]	likely pathogenic	22	20859228	20859228	Human	1	name
151355822	CV1327006	single nucleotide variant	NM_004782.4(SNAP29):c.149T>C (p.Leu50Pro)	not specified [RCV001822175]	uncertain significance	22	20859259	20859259	Human		name
151355902	CV1327085	single nucleotide variant	NM_004782.4(SNAP29):c.131A>G (p.Tyr44Cys)	Inborn genetic diseases [RCV004040959]\|not provided [RCV001869657]\|not specified [RCV001822255]	uncertain significance	22	20859241	20859241	Human	1	name
151776952	CV1379226	single nucleotide variant	NM_004782.4(SNAP29):c.289A>G (p.Lys97Glu)	not provided [RCV001896881]	uncertain significance	22	20870388	20870388	Human		name
151893386	CV1461341	single nucleotide variant	NM_004782.4(SNAP29):c.206A>G (p.Glu69Gly)	Inborn genetic diseases [RCV003167161]\|not provided [RCV001944988]	uncertain significance	22	20859316	20859316	Human	1	name
155986090	CV1907696	single nucleotide variant	NM_004782.4(SNAP29):c.254G>A (p.Arg85Gln)	Inborn genetic diseases [RCV003274244]\|not provided [RCV003097608]	uncertain significance	22	20870353	20870353	Human	1	name
156418445	CV1911119	single nucleotide variant	NM_004782.4(SNAP29):c.103C>T (p.Pro35Ser)	Inborn genetic diseases [RCV003349054]\|not provided [RCV002611638]	uncertain significance	22	20859213	20859213	Human	1	name
156449892	CV1938453	single nucleotide variant	NM_004782.4(SNAP29):c.247C>T (p.Arg83Cys)	Inborn genetic diseases [RCV005281357]\|not provided [RCV003122023]	uncertain significance	22	20870346	20870346	Human	1	name
155939320	CV1948170	single nucleotide variant	NM_004782.4(SNAP29):c.140A>C (p.Gln47Pro)	Inborn genetic diseases [RCV002729949]\|not provided [RCV003111761]	uncertain significance	22	20859250	20859250	Human	1	name
156016906	CV2010392	single nucleotide variant	NM_004782.4(SNAP29):c.149T>A (p.Leu50His)	not provided [RCV002735188]	uncertain significance	22	20859259	20859259	Human		name
156350946	CV2018856	single nucleotide variant	NM_004782.4(SNAP29):c.157G>A (p.Ala53Thr)	not provided [RCV002720176]	uncertain significance	22	20859267	20859267	Human		name
156214014	CV2028558	single nucleotide variant	NM_004782.4(SNAP29):c.146T>G (p.Val49Gly)	not provided [RCV002711876]	uncertain significance	22	20859256	20859256	Human		name
156010314	CV2075517	single nucleotide variant	NM_004782.4(SNAP29):c.269G>T (p.Arg90Leu)	not provided [RCV002843836]	uncertain significance	22	20870368	20870368	Human		name
156389242	CV2122294	single nucleotide variant	NM_004782.4(SNAP29):c.142G>A (p.Glu48Lys)	not provided [RCV002943732]	uncertain significance	22	20859252	20859252	Human		name
11350964	CV237070	single nucleotide variant	NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys)	CEDNIK syndrome [RCV001149421]\|SNAP29-related disorder [RCV003929927]\|not provided [RCV000224707]	benign\|likely benign	22	20870364	20870364	Human	1	name , trait , alternate_id
11632728	CV264778	duplication	NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	CEDNIK syndrome [RCV000778648]\|Hypomyelinating leukodystrophy 2 [RCV000454232]\|Inborn genetic diseases [RCV002519036]\|not provided [RCV000280604]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	20870447	20870448	Human	3	name
402483063	CV2860703	single nucleotide variant	NM_004782.4(SNAP29):c.235G>T (p.Glu79Ter)	not provided [RCV003544195]	pathogenic	22	20859345	20859345	Human		name
402524813	CV2868268	single nucleotide variant	NM_004782.4(SNAP29):c.139C>T (p.Gln47Ter)	not provided [RCV003547971]	pathogenic	22	20859249	20859249	Human		name
405071827	CV3034441	duplication	NM_004782.4(SNAP29):c.538dup (p.Ala180fs)	not provided [RCV003698367]	pathogenic	22	20883484	20883485	Human		name
405124623	CV3043394	single nucleotide variant	NM_004782.4(SNAP29):c.253C>T (p.Arg85Ter)	CEDNIK syndrome [RCV005030218]\|not provided [RCV003724248]	pathogenic\|likely pathogenic	22	20870352	20870352	Human	1	name
11632337	CV347125	single nucleotide variant	NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)	CEDNIK syndrome [RCV000405531]\|not provided [RCV000974375]\|not specified [RCV000516649]	benign\|likely benign	22	20859240	20859240	Human	1	name
407503511	CV3474551	single nucleotide variant	NM_004782.4(SNAP29):c.239A>C (p.Glu80Ala)	Inborn genetic diseases [RCV004670262]	uncertain significance	22	20870338	20870338	Human	1	name
408367097	CV3512408	single nucleotide variant	NM_004782.4(SNAP29):c.193G>A (p.Ala65Thr)	SNAP29-related disorder [RCV004757793]	uncertain significance	22	20859303	20859303	Human		name , trait , alternate_id
597667754	CV3727018	single nucleotide variant	NM_004782.4(SNAP29):c.265G>T (p.Glu89Ter)	CEDNIK syndrome [RCV005029271]	likely pathogenic	22	20870364	20870364	Human	1	name
597889710	CV3804874	single nucleotide variant	NM_004782.4(SNAP29):c.216G>T (p.Lys72Asn)	not provided [RCV005151136]	uncertain significance	22	20859326	20859326	Human		name
598170833	CV3915328	single nucleotide variant	NM_004782.4(SNAP29):c.167C>T (p.Thr56Met)	Inborn genetic diseases [RCV005284695]	uncertain significance	22	20859277	20859277	Human	1	name
598170840	CV3915330	single nucleotide variant	NM_004782.4(SNAP29):c.107A>G (p.Asp36Gly)	Inborn genetic diseases [RCV005284697]	uncertain significance	22	20859217	20859217	Human	1	name
598170843	CV3915331	single nucleotide variant	NM_004782.4(SNAP29):c.152G>T (p.Arg51Leu)	Inborn genetic diseases [RCV005284698]	uncertain significance	22	20859262	20859262	Human	1	name
13481435	CV442346	single nucleotide variant	NM_004782.4(SNAP29):c.193G>C (p.Ala65Pro)	not provided [RCV000517574]	uncertain significance	22	20859303	20859303	Human		name
8654931	CV59436	duplication	NM_004782.4(SNAP29):c.487dup (p.Ser163fs)	CEDNIK syndrome [RCV000043503]\|not provided [RCV000727658]	pathogenic	22	20881100	20881101	Human	1	name
14396155	CV611919	single nucleotide variant	NM_004782.4(SNAP29):c.250C>T (p.Gln84Ter)	not provided [RCV000760891]	pathogenic	22	20870349	20870349	Human		name
15180449	CV717332	single nucleotide variant	NM_004782.4(SNAP29):c.113C>T (p.Pro38Leu)	not provided [RCV000974156]	likely benign	22	20859223	20859223	Human		name
21068270	CV798063	single nucleotide variant	NM_004782.4(SNAP29):c.214A>G (p.Lys72Glu)	not provided [RCV000997872]	uncertain significance	22	20859324	20859324	Human		name
28880757	CV890884	single nucleotide variant	NM_004782.4(SNAP29):c.199A>G (p.Met67Val)	CEDNIK syndrome [RCV001149418]	uncertain significance	22	20859309	20859309	Human	1	name
150548703	CV1294466	single nucleotide variant	NM_004782.4(SNAP29):c.623A>T (p.Glu208Val)	SNAP29-related disorder [RCV003931314]\|not provided [RCV001751958]	likely benign\|uncertain significance	22	20887682	20887682	Human	1	name , trait , alternate_id
150545809	CV1297618	single nucleotide variant	NM_004782.4(SNAP29):c.695A>G (p.Asp232Gly)	not provided [RCV001763206]	uncertain significance	22	20887754	20887754	Human		name
153303402	CV1686210	single nucleotide variant	NM_004782.4(SNAP29):c.318G>C (p.Gln106His)	not provided [RCV002261643]	uncertain significance	22	20870417	20870417	Human		name
156073515	CV1989210	single nucleotide variant	NM_004782.4(SNAP29):c.586C>T (p.Arg196Ter)	CEDNIK syndrome [RCV005025918]\|not provided [RCV002638672]	likely pathogenic\|uncertain significance	22	20883536	20883536	Human	1	name
156403875	CV1989767	single nucleotide variant	NM_004782.4(SNAP29):c.401A>C (p.Gln134Pro)	not provided [RCV002657927]	uncertain significance	22	20870500	20870500	Human		name
156284171	CV2001585	single nucleotide variant	NM_004782.4(SNAP29):c.320A>G (p.Lys107Arg)	not provided [RCV002646946]	uncertain significance	22	20870419	20870419	Human		name
156320671	CV2111988	single nucleotide variant	NM_004782.4(SNAP29):c.766C>T (p.Arg256Ter)	not provided [RCV002937729]	uncertain significance	22	20887825	20887825	Human		name
156231491	CV2112144	single nucleotide variant	NM_004782.4(SNAP29):c.521A>G (p.Asp174Gly)	not provided [RCV002918952]	uncertain significance	22	20883471	20883471	Human		name
156239888	CV2115906	single nucleotide variant	NM_004782.4(SNAP29):c.445G>A (p.Ala149Thr)	not provided [RCV002919259]	uncertain significance	22	20881059	20881059	Human		name
156139943	CV2162156	single nucleotide variant	NM_004782.4(SNAP29):c.767G>A (p.Arg256Gln)	not provided [RCV003022485]	uncertain significance	22	20887826	20887826	Human		name
155955266	CV2166493	single nucleotide variant	NM_004782.4(SNAP29):c.560A>G (p.Asp187Gly)	not provided [RCV003015065]	uncertain significance	22	20883510	20883510	Human		name
155921767	CV2240576	single nucleotide variant	NM_004782.4(SNAP29):c.715A>C (p.Thr239Pro)	Inborn genetic diseases [RCV002773099]	uncertain significance	22	20887774	20887774	Human	1	name
156254207	CV2264633	single nucleotide variant	NM_004782.4(SNAP29):c.644G>A (p.Arg215His)	Inborn genetic diseases [RCV002831306]	uncertain significance	22	20887703	20887703	Human	1	name
156170795	CV2337467	single nucleotide variant	NM_004782.4(SNAP29):c.343G>A (p.Val115Met)	Inborn genetic diseases [RCV002955823]	uncertain significance	22	20870442	20870442	Human	1	name
11350945	CV236972	single nucleotide variant	NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly)	CEDNIK syndrome [RCV000402480]\|not provided [RCV000224672]	benign\|likely benign	22	20881101	20881101	Human	1	name
156098921	CV2370837	single nucleotide variant	NM_004782.4(SNAP29):c.692A>G (p.Asp231Gly)	Inborn genetic diseases [RCV002661841]	uncertain significance	22	20887751	20887751	Human	1	name
401776155	CV2706905	single nucleotide variant	NM_004782.4(SNAP29):c.632T>C (p.Met211Thr)	Inborn genetic diseases [RCV003263136]	uncertain significance	22	20887691	20887691	Human	1	name
405188447	CV2917851	single nucleotide variant	NM_004782.4(SNAP29):c.466C>T (p.Gln156Ter)	not provided [RCV003564656]	pathogenic	22	20881080	20881080	Human		name
405714119	CV3326089	single nucleotide variant	NM_004782.4(SNAP29):c.389C>G (p.Thr130Ser)	Inborn genetic diseases [RCV004462232]	uncertain significance	22	20870488	20870488	Human	1	name
405714124	CV3326090	single nucleotide variant	NM_004782.4(SNAP29):c.573G>T (p.Lys191Asn)	Inborn genetic diseases [RCV004462233]	uncertain significance	22	20883523	20883523	Human	1	name
405714130	CV3326091	single nucleotide variant	NM_004782.4(SNAP29):c.655A>G (p.Ile219Val)	Inborn genetic diseases [RCV004462234]	uncertain significance	22	20887714	20887714	Human	1	name
11623082	CV337555	single nucleotide variant	NM_004782.4(SNAP29):c.550A>G (p.Met184Val)	CEDNIK syndrome [RCV000367997]\|Inborn genetic diseases [RCV003243096]	likely benign\|uncertain significance	22	20883500	20883500	Human	2	name
11653041	CV347129	single nucleotide variant	NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly)	CEDNIK syndrome [RCV000308681]	uncertain significance	22	20881116	20881116	Human	1	name
11626994	CV347133	single nucleotide variant	NM_004782.4(SNAP29):c.580C>T (p.His194Tyr)	CEDNIK syndrome [RCV000273351]	uncertain significance	22	20883530	20883530	Human	1	name
11629048	CV351156	single nucleotide variant	NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys)	CEDNIK syndrome [RCV000314485]\|Inborn genetic diseases [RCV003278778]	uncertain significance	22	20887702	20887702	Human	2	name
597730023	CV3597410	single nucleotide variant	NM_004782.4(SNAP29):c.341G>A (p.Ser114Asn)	Inborn genetic diseases [RCV004963850]	uncertain significance	22	20870440	20870440	Human	1	name
598170827	CV3915326	single nucleotide variant	NM_004782.4(SNAP29):c.515A>C (p.Asp172Ala)	Inborn genetic diseases [RCV005284693]	uncertain significance	22	20881129	20881129	Human	1	name
598170831	CV3915327	single nucleotide variant	NM_004782.4(SNAP29):c.448A>G (p.Ile150Val)	Inborn genetic diseases [RCV005284694]	uncertain significance	22	20881062	20881062	Human	1	name
598170850	CV3915333	single nucleotide variant	NM_004782.4(SNAP29):c.614A>G (p.Asn205Ser)	Inborn genetic diseases [RCV005284700]	uncertain significance	22	20883564	20883564	Human	1	name
12893303	CV410919	single nucleotide variant	NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter)	CEDNIK syndrome [RCV002251743]\|not provided [RCV000478546]	pathogenic\|likely pathogenic	22	20887681	20887681	Human	1	name
13214045	CV430552	single nucleotide variant	NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)	SNAP29-related disorder [RCV003960183]\|not provided [RCV001507497]\|not specified [RCV000500650]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	20887688	20887688	Human	1	name , trait , alternate_id
28869901	CV890885	single nucleotide variant	NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg)	CEDNIK syndrome [RCV001145128]\|not provided [RCV002557108]	uncertain significance	22	20881132	20881132	Human	1	name
28869907	CV890886	single nucleotide variant	NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn)	CEDNIK syndrome [RCV001145130]\|not provided [RCV001760102]	uncertain significance	22	20883557	20883557	Human	1	name
28874167	CV890887	single nucleotide variant	NM_004782.4(SNAP29):c.697A>G (p.Ile233Val)	CEDNIK syndrome [RCV001147087]	uncertain significance	22	20887756	20887756	Human	1	name
405139330	CV3029706	deletion	NM_004782.4(SNAP29):c.247_248del (p.Arg83fs)	not provided [RCV003702372]	pathogenic	22	20870346	20870347	Human		name
28895361	CV860702	deletion	NM_004782.4(SNAP29):c.365_368del (p.Tyr122fs)	not provided [RCV001092752]	pathogenic\|likely pathogenic	22	20870462	20870465	Human		name

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