ClinVar for Gene (Select 54757) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242586	NM_017565.4(FAM20A):c.188dup (p.Asp63fs)	FAM20A (D63fs)	Duplication (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
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 3092248	NM_017565.4(FAM20A):c.170C>G (p.Ser57Trp)	FAM20A (S57W)	Single nucleotide variant (5 prime UTR variant +1 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 3092246	NM_017565.4(FAM20A):c.133C>T (p.Pro45Ser)	FAM20A (P45S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063496	GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3	ABCA10, ABCA6 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3047779	NM_017565.4(FAM20A):c.712C>T (p.Pro238Ser)	FAM20A (P100S +1 more)	Single nucleotide variant (missense variant +1 more)	FAM20A-related disorder	GUncertain significance
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 2984373	NM_017565.4(FAM20A):c.174C>A (p.Ala58=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2980264	NM_017565.4(FAM20A):c.345G>T (p.Ser115=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2955663	NM_017565.4(FAM20A):c.201C>T (p.Ile67=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2902788	NM_017565.4(FAM20A):c.339G>C (p.Glu113Asp)	FAM20A (E113D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2887456	NM_017565.4(FAM20A):c.156C>T (p.Ser52=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2871687	NM_017565.4(FAM20A):c.126G>A (p.Arg42=)	FAM20A	Single nucleotide variant (5 prime UTR 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 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 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 2699619	NM_017565.4(FAM20A):c.426G>A (p.Glu142=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2664908	NM_017565.4(FAM20A):c.626dup (p.Cys209fs)	FAM20A (C209fs +1 more)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
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 2636694	NM_017565.4(FAM20A):c.509G>A (p.Arg170His)	FAM20A (R170H +1 more)	Single nucleotide variant (missense variant +1 more)	FAM20A-related disorder	GUncertain significance
Select item 2634747	NM_017565.4(FAM20A):c.1109+6T>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	FAM20A-related disorder	GUncertain significance
Select item 2595993	NM_017565.4(FAM20A):c.394C>T (p.Arg132Cys)	FAM20A (R132C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 2544633	NM_017565.4(FAM20A):c.592T>C (p.Tyr198His)	FAM20A (Y60H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	PRKAR1A, FAM20A	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 2445461	NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)	FAM20A (L18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G	GUncertain significance
Select item 2445460	NM_017565.4(FAM20A):c.610del (p.Ala204fs)	FAM20A (A204fs +1 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 2441337	NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)	FAM20A, PRKAR1A (F266L +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GUncertain significance
Select item 2424527	NC_000017.10:g.(?_66508520)_(66548013_?)del	FAM20A, PRKAR1A	Deletion	Carney complex, type 1	GPathogenic
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 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 2294790	NM_017565.4(FAM20A):c.181G>A (p.Ala61Thr)	FAM20A (A61T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278497	NM_017565.4(FAM20A):c.365C>T (p.Ala122Val)	FAM20A (A122V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272418	NM_017565.4(FAM20A):c.134C>G (p.Pro45Arg)	FAM20A (P45R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238111	NM_017565.4(FAM20A):c.625T>C (p.Cys209Arg)	FAM20A (C209R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228726	NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser)	FAM20A (C209S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226849	NM_017565.4(FAM20A):c.340G>A (p.Asp114Asn)	FAM20A (D114N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2193395	NM_017565.4(FAM20A):c.321G>T (p.Pro107=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2186268	NM_017565.4(FAM20A):c.248G>A (p.Gly83Asp)	FAM20A (G83D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2184856	NM_017565.4(FAM20A):c.526C>T (p.Arg176Trp)	FAM20A (R176W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2180966	NM_017565.4(FAM20A):c.1610C>T (p.Ala537Val)	PRKAR1A, FAM20A (A537V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2133767	NM_017565.4(FAM20A):c.6G>A (p.Pro2=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2127374	NM_017565.4(FAM20A):c.127G>C (p.Gly43Arg)	FAM20A (G43R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2125001	NM_017565.4(FAM20A):c.435C>G (p.Asn145Lys)	FAM20A (N7K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122520	NM_017565.4(FAM20A):c.1220-10T>C	PRKAR1A, FAM20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106203	NM_017565.4(FAM20A):c.681G>A (p.Arg227=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2086865	NM_017565.4(FAM20A):c.279G>A (p.Gln93=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2085989	NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro)	FAM20A, PRKAR1A (L291P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +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 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)	not provided +1 more	GUncertain significance
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 2059439	NM_017565.4(FAM20A):c.162G>A (p.Ala54=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 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 2043950	NM_017565.4(FAM20A):c.329T>A (p.Leu110Gln)	FAM20A (L110Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2042512	NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser)	PRKAR1A, FAM20A (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)	PRKAR1A, FAM20A (A124D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1991948	NM_017565.4(FAM20A):c.640+20C>G	FAM20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987813	NM_017565.4(FAM20A):c.1109+11C>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975754	NM_017565.4(FAM20A):c.1301+15G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967305	NM_017565.4(FAM20A):c.613T>A (p.Leu205Met)	FAM20A (L205M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1959329	NM_017565.4(FAM20A):c.231G>T (p.Arg77=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 1941052	NM_017565.4(FAM20A):c.324T>G (p.Pro108=)	FAM20A	Single nucleotide variant (synonymous variant +1 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 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 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
Select item 1909004	NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu)	FAM20A	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1896797	NM_017565.4(FAM20A):c.929-12C>T	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804412	NM_017565.4(FAM20A):c.134C>A (p.Pro45Gln)	FAM20A (P45Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1703465	NM_017565.4(FAM20A):c.929-11_929-3del	FAM20A, PRKAR1A	Deletion (intron variant)	not provided	GUncertain significance

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