9388[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 1147674	NM_001267727.2(ARSG):c.1304-8CT[2]	ARSG, PRKAR1A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2803842	NM_001267727.2(ARSG):c.1304-6C>T	ARSG, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1413472	NM_001267727.2(ARSG):c.1307G>A (p.Gly436Glu)	ARSG, PRKAR1A (G435E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981237	NM_001267727.2(ARSG):c.1310C>T (p.Ala437Val)	ARSG, PRKAR1A (A436V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1479634	NM_001267727.2(ARSG):c.1315G>A (p.Ala439Thr)	ARSG, PRKAR1A (A439T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088892	NM_001267727.2(ARSG):c.1316C>T (p.Ala439Val)	ARSG, PRKAR1A (A438V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1105309	NM_001267727.2(ARSG):c.1317G>A (p.Ala439=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992583	NM_001267727.2(ARSG):c.1326del (p.Ser443fs)	ARSG, PRKAR1A (S442fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1362572	NM_001267727.2(ARSG):c.1330A>G (p.Thr444Ala)	ARSG, PRKAR1A (T443A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1169210	NM_001267727.2(ARSG):c.1331C>T (p.Thr444Met)	ARSG, PRKAR1A (T443M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1915672	NM_001267727.2(ARSG):c.1332G>A (p.Thr444=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1148235	NM_001267727.2(ARSG):c.1332G>C (p.Thr444=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1518793	NM_001267727.2(ARSG):c.1340A>G (p.Glu447Gly)	ARSG, PRKAR1A (E447G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 966915	NM_001267727.2(ARSG):c.1343T>C (p.Leu448Pro)	ARSG, PRKAR1A (L447P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1398583	NM_001267727.2(ARSG):c.1351A>G (p.Lys451Glu)	ARSG, PRKAR1A (K450E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 955795	NM_001267727.2(ARSG):c.1353del (p.Lys451fs)	ARSG, PRKAR1A (K450fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1547475	NM_001267727.2(ARSG):c.1360C>T (p.Leu454=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1441112	NM_001267727.2(ARSG):c.1367dup (p.Asn457fs)	ARSG, PRKAR1A (N457fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1475042	NM_001267727.2(ARSG):c.1382_1387del (p.Asp461_Thr462del)	ARSG, PRKAR1A	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1103136	NM_001267727.2(ARSG):c.1380C>T (p.Asp460=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1052317	NM_001267727.2(ARSG):c.1381G>A (p.Asp461Asn)	ARSG, PRKAR1A (D460N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1037926	NM_001267727.2(ARSG):c.1385C>T (p.Thr462Ile)	ARSG, PRKAR1A (T461I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1622040	NM_001267727.2(ARSG):c.1386C>T (p.Thr462=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852504	NM_001267727.2(ARSG):c.1395T>C (p.Ala465=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2004699	NM_001267727.2(ARSG):c.1406A>G (p.Glu469Gly)	ARSG, PRKAR1A (E469G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831948	NM_001267727.2(ARSG):c.1413_1429del (p.Gly472fs)	ARSG, PRKAR1A (G472fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1002055	NM_001267727.2(ARSG):c.1412G>A (p.Gly471Asp)	ARSG, PRKAR1A (G470D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1394410	NM_001267727.2(ARSG):c.1415G>A (p.Gly472Asp)	ARSG, PRKAR1A (G472D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1375874	NM_001267727.2(ARSG):c.1418C>T (p.Ala473Val)	ARSG, PRKAR1A (A472V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1089521	NM_001267727.2(ARSG):c.1419G>A (p.Ala473=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795458	NM_001267727.2(ARSG):c.1429G>C (p.Ala477Pro)	ARSG, PRKAR1A (A477P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1480776	NM_001267727.2(ARSG):c.1438C>T (p.Pro480Ser)	ARSG, PRKAR1A (P479S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2173474	NM_001267727.2(ARSG):c.1440C>G (p.Pro480=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1151968	NM_001267727.2(ARSG):c.1440C>T (p.Pro480=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 858598	NM_001267727.2(ARSG):c.1441G>A (p.Glu481Lys)	ARSG, PRKAR1A (E481K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1513076	NM_001267727.2(ARSG):c.1448G>T (p.Arg483Ile)	ARSG, PRKAR1A (R483I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1955844	NM_001267727.2(ARSG):c.1452G>C (p.Lys484Asn)	ARSG, PRKAR1A (K484N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1654500	NM_001267727.2(ARSG):c.1464C>T (p.Asp488=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1060341	NM_001267727.2(ARSG):c.1465G>A (p.Val489Ile)	ARSG, PRKAR1A (V488I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2064852	NM_001267727.2(ARSG):c.1467C>T (p.Val489=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731552	NM_001267727.2(ARSG):c.1478T>C (p.Ile493Thr)	ARSG, PRKAR1A (I492T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1116297	NM_001267727.2(ARSG):c.1482C>T (p.Ala494=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 769925	NM_001267727.2(ARSG):c.1485C>T (p.Asn495=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 856130	NM_001267727.2(ARSG):c.1486G>A (p.Asp496Asn)	ARSG, PRKAR1A (D495N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1913815	NM_001267727.2(ARSG):c.1490A>C (p.Asn497Thr)	ARSG, PRKAR1A (N496T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1111493	NM_001267727.2(ARSG):c.1491C>T (p.Asn497=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1145071	NM_001267727.2(ARSG):c.1500C>T (p.Ser500=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1524091	NM_001267727.2(ARSG):c.1501G>A (p.Ala501Thr)	ARSG, PRKAR1A (A500T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1107275	NM_001267727.2(ARSG):c.1506T>C (p.Asp502=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1275781	NM_001267727.2(ARSG):c.1512_1531del (p.Gln505fs)	ARSG, PRKAR1A (Q504fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1561131	NM_001267727.2(ARSG):c.1512T>C (p.Thr504=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1473623	NM_001267727.2(ARSG):c.1516G>A (p.Asp506Asn)	ARSG, PRKAR1A (D505N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2094694	NM_001267727.2(ARSG):c.1518C>A (p.Asp506Glu)	ARSG, PRKAR1A (D506E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2118139	NM_001267727.2(ARSG):c.1519C>A (p.Pro507Thr)	ARSG, PRKAR1A (P507T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1389689	NM_001267727.2(ARSG):c.1545del (p.Tyr516fs)	ARSG, PRKAR1A (Y515fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1500962	NM_001267727.2(ARSG):c.1552del (p.Ile518fs)	ARSG, PRKAR1A (I518fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1407223	NM_001267727.2(ARSG):c.1550A>C (p.Gln517Pro)	ARSG, PRKAR1A (Q517P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1092977	NM_001267727.2(ARSG):c.1557C>T (p.Ala519=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1524026	NM_001267727.2(ARSG):c.1560C>A (p.Cys520Ter)	ARSG, PRKAR1A (C520* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1914446	NM_001267727.2(ARSG):c.1561C>T (p.Arg521Cys)	ARSG, PRKAR1A (R521C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1008791	NM_001267727.2(ARSG):c.1562G>A (p.Arg521His)	ARSG, PRKAR1A (R520H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1993632	NM_001267727.2(ARSG):c.1564T>C (p.Cys522Arg)	ARSG, PRKAR1A (C522R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1560421	NM_001267727.2(ARSG):c.1572C>T (p.Ala524=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2081302	NM_001267727.2(ARSG):c.1573G>C (p.Ala525Pro)	ARSG, PRKAR1A (A525P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068129	NM_001267727.2(ARSG):c.1574C>T (p.Ala525Val)	ARSG, PRKAR1A (A524V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3048656	NM_001267727.2(ARSG):c.*10T>C	ARSG, PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	ARSG-related disorder	GLikely benign
Select item 1249590	NM_001267727.2(ARSG):c.*32C>T	ARSG, PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	LOC129390924, LOC129390925 +59 more	Copy number loss	See cases	GPathogenic
Select item 3190574	NM_017983.7(WIPI1):c.1322G>A (p.Gly441Asp)	ARSG, PRKAR1A +1 more (G441D +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2617959	NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln)	ARSG, PRKAR1A +1 more (R407Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519721	NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val)	ARSG, PRKAR1A +1 more (A323V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 786658	NM_017983.7(WIPI1):c.1192+4G>A	ARSG, PRKAR1A +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2513367	NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met)	ARSG, PRKAR1A +1 more (T313M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3047301	NM_017983.7(WIPI1):c.1152C>T (p.Thr384=)	ARSG, PRKAR1A +1 more	Single nucleotide variant (synonymous variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 3190573	NM_017983.7(WIPI1):c.1094C>G (p.Thr365Arg)	ARSG, PRKAR1A +1 more (T283R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326954	NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr)	ARSG, PRKAR1A +1 more (H275Y +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2299575	NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu)	ARSG, PRKAR1A +1 more (G267E +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3333126	NM_017983.7(WIPI1):c.1045G>A (p.Gly349Arg)	ARSG, PRKAR1A +1 more (G267R +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 626260	NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln)	ARSG, PRKAR1A +1 more (R246Q +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Neural tube defect	GAffects
Select item 2544480	NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn)	ARSG, PRKAR1A +1 more (I317N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 716489	NM_017983.7(WIPI1):c.923G>A (p.Arg308His)	ARSG, PRKAR1A +1 more (R308H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2225566	NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys)	ARSG, PRKAR1A +1 more (R226C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255928	NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile)	ARSG, PRKAR1A +1 more (T224I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333127	NM_017983.7(WIPI1):c.889A>G (p.Met297Val)	ARSG, PRKAR1A +1 more (M215V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588786	NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu)	ARSG, PRKAR1A +1 more (F201L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325263	NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn)	ARSG, PRKAR1A +1 more (Y278N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300421	NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala)	ARSG, PRKAR1A +1 more (T183A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393222	NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys)	ARSG, PRKAR1A +1 more (E254K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333131	NM_017983.7(WIPI1):c.722G>A (p.Ser241Asn)	ARSG, PRKAR1A +1 more (S159N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3045393	NM_017983.7(WIPI1):c.687G>A (p.Met229Ile)	ARSG, PRKAR1A +1 more (M147I +1 more)	Single nucleotide variant (missense variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 2249374	NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala)	ARSG, PRKAR1A +1 more (P217A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280776	NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys)	ARSG, PRKAR1A +1 more (E206K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190578	NM_017983.7(WIPI1):c.556G>A (p.Glu186Lys)	ARSG, PRKAR1A +1 more (E104K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515115	NM_017983.7(WIPI1):c.473C>T (p.Ala158Val)	ARSG, PRKAR1A +1 more (A76V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333125	NM_017983.7(WIPI1):c.328C>T (p.Arg110Trp)	ARSG, PRKAR1A +1 more (R28W +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3333128	NM_017983.7(WIPI1):c.242G>A (p.Arg81Gln)	ARSG, PRKAR1A +1 more (R81Q)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 791202	NM_017983.7(WIPI1):c.237A>G (p.Lys79=)	ARSG, PRKAR1A +1 more	Single nucleotide variant (3 prime UTR variant +4 more)	not provided	GBenign

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