Related gene-specific medical variations for Gene (Select 5573) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 229

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3190577	NM_017983.7(WIPI1):c.187G>A (p.Val63Met)	ARSG, PRKAR1A +1 more (V63M)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190576	NM_017983.7(WIPI1):c.175G>T (p.Asp59Tyr)	ARSG, PRKAR1A +1 more (D59Y)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190575	NM_017983.7(WIPI1):c.154C>T (p.His52Tyr)	PRKAR1A, WIPI1 (H52Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 3092249	NM_017565.4(FAM20A):c.847G>C (p.Gly283Arg)	FAM20A, PRKAR1A (G283R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3092247	NM_017565.4(FAM20A):c.1541T>A (p.Val514Glu)	FAM20A, PRKAR1A (V376E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3048656	NM_001267727.2(ARSG):c.*10T>C	ARSG, PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	ARSG-related condition	GLikely benign
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 condition	GLikely benign
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 condition	GLikely benign
Select item 3021315	NM_017565.4(FAM20A):c.936C>T (p.Asn312=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3004576	NM_017565.4(FAM20A):c.929-13C>T	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890475	NM_017565.4(FAM20A):c.1572C>T (p.Asp524=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 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 2846090	NM_017565.4(FAM20A):c.939G>A (p.Val313=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2844055	NM_017565.4(FAM20A):c.1484T>C (p.Leu495Pro)	FAM20A, PRKAR1A (L357P +1 more)	Single nucleotide variant (missense variant +2 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 2814671	NM_017565.4(FAM20A):c.1301+8T>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807344	NM_017565.4(FAM20A):c.917T>C (p.Phe306Ser)	FAM20A, PRKAR1A (F306S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2803842	NM_001267727.2(ARSG):c.1304-6C>T	ARSG, PRKAR1A	Single nucleotide variant (intron variant)	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 2787979	NM_017565.4(FAM20A):c.1361+15A>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779881	NM_017565.4(FAM20A):c.1309C>T (p.Arg437Ter)	FAM20A, PRKAR1A (R299* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2761735	NM_017565.4(FAM20A):c.1110-8C>A	FAM20A, PRKAR1A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2723208	NM_017565.4(FAM20A):c.907_908del (p.Ser303fs)	FAM20A, PRKAR1A (S165fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2722850	NM_017565.4(FAM20A):c.1242T>C (p.Tyr414=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2678068	NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)	PRKAR1A (K216T)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance	GUncertain significance
Select item 2648153	NM_017565.4(FAM20A):c.1173G>A (p.Gln391=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2634747	NM_017565.4(FAM20A):c.1109+6T>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	FAM20A-related condition	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 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 2546068	NM_017565.4(FAM20A):c.1600T>C (p.Ser534Pro)	FAM20A, PRKAR1A (S534P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2490556	NM_017565.4(FAM20A):c.1615T>G (p.Leu539Val)	FAM20A, PRKAR1A (L401V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489877	NM_017565.4(FAM20A):c.1423G>A (p.Asp475Asn)	FAM20A, PRKAR1A (D337N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2487263	NM_017565.4(FAM20A):c.1261G>A (p.Gly421Arg)	FAM20A, PRKAR1A (G283R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2445614	NM_017565.4(FAM20A):c.1301+5G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1G	GUncertain significance
Select item 2445596	NM_017565.4(FAM20A):c.928+2T>C	FAM20A, PRKAR1A	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 2445463	NM_017565.4(FAM20A):c.1361+1G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 2445462	NM_017565.4(FAM20A):c.976_978del (p.Glu326del)	FAM20A, PRKAR1A (E188del +1 more)	Deletion (inframe_deletion +2 more)	Amelogenesis imperfecta type 1G	GUncertain significance
Select item 2441337	NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)	FAM20A, PRKAR1A (F266L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2419239	NM_017565.4(FAM20A):c.1082G>A (p.Arg361His)	FAM20A, PRKAR1A (R223H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2415820	NM_017565.4(FAM20A):c.974C>T (p.Thr325Met)	FAM20A, PRKAR1A (T187M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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 2390770	NM_017565.4(FAM20A):c.1004T>G (p.Leu335Arg)	FAM20A, PRKAR1A (L197R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329410	NM_017565.4(FAM20A):c.1357T>C (p.Cys453Arg)	FAM20A, PRKAR1A (C315R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 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 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 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 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 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 2180966	NM_017565.4(FAM20A):c.1610C>T (p.Ala537Val)	FAM20A, PRKAR1A (A537V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2173474	NM_001267727.2(ARSG):c.1440C>G (p.Pro480=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	ARSG-related condition +1 more	GLikely benign
Select item 2172853	NM_017565.4(FAM20A):c.1232G>A (p.Arg411Gln)	FAM20A, PRKAR1A (R273Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2148863	NM_017565.4(FAM20A):c.1035G>A (p.Pro345=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2138100	NM_017565.4(FAM20A):c.992G>A (p.Gly331Asp)	FAM20A, PRKAR1A (G331D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2122520	NM_017565.4(FAM20A):c.1220-10T>C	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2100698	NM_017565.4(FAM20A):c.1502G>A (p.Arg501Lys)	FAM20A, PRKAR1A (R363K +1 more)	Single nucleotide variant (missense variant +2 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 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 2085989	NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro)	FAM20A, PRKAR1A (L291P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2085866	NM_017565.4(FAM20A):c.1381T>C (p.Leu461=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 2075272	NM_017565.4(FAM20A):c.975G>A (p.Thr325=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2075055	NM_017565.4(FAM20A):c.1431G>C (p.Met477Ile)	FAM20A, PRKAR1A (M477I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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 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 2062927	NM_017565.4(FAM20A):c.1038C>T (p.Ser346=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2057350	NM_017565.4(FAM20A):c.1220-7_1220-5del	FAM20A, PRKAR1A	Deletion (intron variant)	not provided	GLikely benign
Select item 2052341	NM_017565.4(FAM20A):c.1398G>T (p.Leu466=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2051046	NM_017565.4(FAM20A):c.1071C>T (p.Asn357=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2042512	NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser)	FAM20A, PRKAR1A (P248S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2014662	NM_017565.4(FAM20A):c.785C>A (p.Ala262Asp)	FAM20A, PRKAR1A (A124D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 1987813	NM_017565.4(FAM20A):c.1109+11C>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 provided +1 more	GUncertain significance
Select item 1975754	NM_017565.4(FAM20A):c.1301+15G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964902	NM_017565.4(FAM20A):c.885C>A (p.Val295=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 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 1941302	NM_017565.4(FAM20A):c.1589_1590inv (p.Leu530Ser)	FAM20A, PRKAR1A (L392S +1 more)	Inversion (missense variant +2 more)	not provided	GLikely benign
Select item 1919725	NM_017565.4(FAM20A):c.1361+7T>C	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917502	NM_017565.4(FAM20A):c.1108_1109+1del	FAM20A, PRKAR1A	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
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 1914559	NM_017565.4(FAM20A):c.1545C>T (p.Ala515=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 1913484	NM_017565.4(FAM20A):c.953A>G (p.Lys318Arg)	FAM20A, PRKAR1A (K180R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1912887	NM_017565.4(FAM20A):c.1306G>A (p.Gly436Arg)	FAM20A, PRKAR1A (G298R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1912707	NM_017565.4(FAM20A):c.1301+14C>T	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912648	NM_017565.4(FAM20A):c.1565T>C (p.Ile522Thr)	FAM20A, PRKAR1A (I384T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1910591	NM_017565.4(FAM20A):c.1161C>T (p.Tyr387=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

<< First< Prev

Page of 3