9631[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 57962	GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3	CPLANE1, CPLANE1-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57963	GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3	CPLANE1, CPLANE1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 147552	GRCh38/hg38 5p13.2(chr5:37054860-37586108)x3	CPLANE1, CPLANE1-AS1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 151661	GRCh38/hg38 5p13.2(chr5:37150088-37364068)x3	CPLANE1, CPLANE1-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 57964	GRCh38/hg38 5p13.2(chr5:37157004-37571897)x3	CPLANE1, CPLANE1-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 153988	GRCh38/hg38 5p13.2(chr5:37165366-37721778)x3	CPLANE1, CPLANE1-AS1 +20 more	Copy number gain	See cases	GLikely benign
Select item 152878	GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3	CPLANE1, CPLANE1-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 152428	GRCh38/hg38 5p13.2(chr5:37239106-37298497)x4	CPLANE1, CPLANE1-AS1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 152427	GRCh38/hg38 5p13.2(chr5:37239106-37298497)x3	CPLANE1, CPLANE1-AS1 +4 more	Copy number gain	See cases	GLikely benign
Select item 1270364	NM_153485.3(NUP155):c.*19A>G	NUP155	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3203004	NM_153485.3(NUP155):c.4126A>G (p.Ile1376Val)	NUP155 (I1317V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059048	NM_153485.3(NUP155):c.4060C>T (p.Leu1354=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign
Select item 3203003	NM_153485.3(NUP155):c.4046T>G (p.Phe1349Cys)	NUP155 (F1290C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290619	NM_153485.3(NUP155):c.4038-99C>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267101	NM_153485.3(NUP155):c.4038-181_4038-180del	NUP155	Deletion (intron variant)	not provided	GBenign
Select item 1263135	NM_153485.3(NUP155):c.4038-227G>C	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2623325	NM_153485.3(NUP155):c.4031G>A (p.Cys1344Tyr)	NUP155 (C1280Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251251	NM_153485.3(NUP155):c.3931-128T>C	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247038	NM_153485.3(NUP155):c.3930+35C>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3203002	NM_153485.3(NUP155):c.3918G>C (p.Leu1306Phe)	NUP155 (L1247F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256227	NM_153485.3(NUP155):c.3918G>T (p.Leu1306Phe)	NUP155 (L1242F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294896	NM_153485.3(NUP155):c.3888A>G (p.Leu1296=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder +1 more	GBenign
Select item 2472868	NM_153485.3(NUP155):c.3865A>G (p.Met1289Val)	NUP155 (M1289V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203001	NM_153485.3(NUP155):c.3802G>A (p.Val1268Ile)	NUP155 (V1209I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263247	NM_153485.3(NUP155):c.3793+89A>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3203000	NM_153485.3(NUP155):c.3778C>T (p.Arg1260Cys)	NUP155 (R1196C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035737	NM_153485.3(NUP155):c.3768T>C (p.Ala1256=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign
Select item 776039	NM_153485.3(NUP155):c.3756C>T (p.Gly1252=)	NUP155	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767997	NM_153485.3(NUP155):c.3714G>A (p.Ser1238=)	NUP155	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2613840	NM_153485.3(NUP155):c.3707G>A (p.Ser1236Asn)	NUP155 (S1172N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270096	NM_153485.3(NUP155):c.3656C>T (p.Thr1219Ile)	NUP155 (T1219I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607633	NM_153485.3(NUP155):c.3641C>T (p.Pro1214Leu)	NUP155 (P1155L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202999	NM_153485.3(NUP155):c.3617T>G (p.Ile1206Ser)	NUP155 (I1206S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277226	NM_153485.3(NUP155):c.3562-124T>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294895	NM_153485.3(NUP155):c.3561+87A>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3202998	NM_153485.3(NUP155):c.3458T>C (p.Ile1153Thr)	NUP155 (I1153T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251494	NM_153485.3(NUP155):c.3416A>G (p.Glu1139Gly)	NUP155 (E1080G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202996	NM_153485.3(NUP155):c.3248G>A (p.Arg1083Gln)	NUP155 (R1019Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406073	NM_153485.3(NUP155):c.3227G>A (p.Arg1076His)	NUP155 (R1012H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1032504	NM_153485.3(NUP155):c.3226C>T (p.Arg1076Cys)	NUP155 (R1017C +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 15	GUncertain significance
Select item 2518206	NM_153485.3(NUP155):c.3175T>C (p.Phe1059Leu)	NUP155 (F1000L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239009	NM_153485.3(NUP155):c.3162+14T>C	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3058518	NM_153485.3(NUP155):c.3138C>T (p.Val1046=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign
Select item 2275324	NM_153485.3(NUP155):c.3136G>C (p.Val1046Leu)	NUP155 (V1046L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342822	NM_153485.3(NUP155):c.3132A>G (p.Ile1044Met)	NUP155 (I1044M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548130	NM_153485.3(NUP155):c.3130A>T (p.Ile1044Leu)	NUP155 (I985L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336417	NM_153485.3(NUP155):c.2905T>A (p.Leu969Ile)	NUP155 (L905I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238089	NM_153485.3(NUP155):c.2904-181del	NUP155	Deletion (intron variant)	not provided	GBenign
Select item 1231311	NM_153485.3(NUP155):c.2903+215G>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294912	NM_153485.3(NUP155):c.2903+84dup	NUP155	Duplication (intron variant)	not provided	GBenign
Select item 1181834	NM_153485.3(NUP155):c.2903+84_2903+86dup	NUP155	Duplication (intron variant)	not provided	GBenign
Select item 1229137	NM_153485.3(NUP155):c.2903+10A>G	NUP155	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2270335	NM_153485.3(NUP155):c.2890G>T (p.Ala964Ser)	NUP155 (A964S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047258	NM_153485.3(NUP155):c.2768-5A>G	NUP155	Single nucleotide variant (intron variant)	NUP155-related disorder	GLikely benign
Select item 1272178	NM_153485.3(NUP155):c.2767+127G>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2379508	NM_153485.3(NUP155):c.2728C>G (p.Gln910Glu)	NUP155 (Q851E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256663	NM_153485.3(NUP155):c.2705A>C (p.Lys902Thr)	NUP155 (K838T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397681	NM_153485.3(NUP155):c.2669A>G (p.Lys890Arg)	NUP155 (K826R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299441	NM_153485.3(NUP155):c.2651C>G (p.Ser884Cys)	NUP155 (S884C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245806	NM_153485.3(NUP155):c.2629-5_2629-3del	NUP155	Microsatellite (intron variant)	not provided	GBenign
Select item 709212	NM_153485.3(NUP155):c.2629-7C>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2344476	NM_153485.3(NUP155):c.2617A>G (p.Ile873Val)	NUP155 (I814V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2614216	NM_153485.3(NUP155):c.2576T>C (p.Leu859Ser)	NUP155 (L859S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594030	NM_153485.3(NUP155):c.2521C>T (p.Leu841Phe)	NUP155 (L841F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776040	NM_153485.3(NUP155):c.2517T>C (p.Ala839=)	NUP155	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2277007	NM_153485.3(NUP155):c.2474A>T (p.Asp825Val)	NUP155 (D766V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1259659	NM_153485.3(NUP155):c.2436+223A>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2298426	NM_153485.3(NUP155):c.2419G>A (p.Val807Met)	NUP155 (V748M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779883	NM_153485.3(NUP155):c.2406A>G (p.Gln802=)	NUP155	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3041295	NM_153485.3(NUP155):c.2357G>A (p.Arg786Gln)	NUP155 (R727Q +1 more)	Single nucleotide variant (missense variant)	NUP155-related disorder	GLikely benign
Select item 3202995	NM_153485.3(NUP155):c.2348A>C (p.Gln783Pro)	NUP155 (Q724P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738986	NM_153485.3(NUP155):c.2280A>G (p.Gln760=)	NUP155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551125	NM_153485.3(NUP155):c.2278C>G (p.Gln760Glu)	NUP155 (Q760E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288718	NM_153485.3(NUP155):c.2208-108C>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256750	NM_153485.3(NUP155):c.2208-187A>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2376048	NM_153485.3(NUP155):c.2177A>G (p.Gln726Arg)	NUP155 (Q667R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282920	NM_153485.3(NUP155):c.2092-116G>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225738	NM_153485.3(NUP155):c.2091+192G>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267534	NM_153485.3(NUP155):c.2091+84T>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287261	NM_153485.3(NUP155):c.2091+63A>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2597152	NM_153485.3(NUP155):c.2015G>A (p.Arg672Gln)	NUP155 (R613Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709224	NM_153485.3(NUP155):c.1929A>C (p.Ala643=)	NUP155	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2524370	NM_153485.3(NUP155):c.1888C>T (p.Pro630Ser)	NUP155 (P571S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202994	NM_153485.3(NUP155):c.1877G>T (p.Gly626Val)	NUP155 (G567V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259841	NM_153485.3(NUP155):c.1814-153C>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2488383	NM_153485.3(NUP155):c.1769C>T (p.Pro590Leu)	NUP155 (P531L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257340	NM_153485.3(NUP155):c.1630-105T>C	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257755	NM_153485.3(NUP155):c.1629+124G>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3202993	NM_153485.3(NUP155):c.1626T>G (p.His542Gln)	NUP155 (H483Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202992	NM_153485.3(NUP155):c.1624C>T (p.His542Tyr)	NUP155 (H483Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783391	NM_153485.3(NUP155):c.1621T>C (p.Leu541=)	NUP155	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3035447	NM_153485.3(NUP155):c.1569A>G (p.Leu523=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign

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