54757[geneid] - 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	ABCA10, ADAM11 +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 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	ABCA10, ABCA5 +59 more	Copy number loss	See cases	GPathogenic
Select item 1691825	NM_001276290.1(PRKAR1A):c.973+4267_974-9286del	FAM20A, PRKAR1A	Deletion	Amelogenesis imperfecta type 1G	GPathogenic
Select item 1249313	NM_017565.4(FAM20A):c.*210G>A	FAM20A, PRKAR1A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
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 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 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 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 260830	NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser)	PRKAR1A, FAM20A (L530S +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign
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 1077708	NM_017565.4(FAM20A):c.1569C>T (p.Val523=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	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 1914559	NM_017565.4(FAM20A):c.1545C>T (p.Ala515=)	PRKAR1A, FAM20A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 369223	NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile)	FAM20A, PRKAR1A (T366I +1 more)	Single nucleotide variant (missense variant +2 more)	Acrodysostosis +2 more	GBenign/Likely 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 2844055	NM_017565.4(FAM20A):c.1484T>C (p.Leu495Pro)	PRKAR1A, FAM20A (L357P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 742051	NM_017565.4(FAM20A):c.1479C>A (p.Pro493=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1597393	NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile)	FAM20A, PRKAR1A (T353I +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GLikely benign
Select item 1696930	NM_017565.4(FAM20A):c.1447del (p.Glu483fs)	FAM20A, PRKAR1A (E345fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 735382	NM_017565.4(FAM20A):c.1432C>A (p.Arg478=)	PRKAR1A, FAM20A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 139649	NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter)	FAM20A, PRKAR1A (R478* +1 more)	Single nucleotide variant (nonsense +2 more)	Amelogenesis imperfecta type 1G	GPathogenic
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	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 2052341	NM_017565.4(FAM20A):c.1398G>T (p.Leu466=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 962038	NM_017565.4(FAM20A):c.1378C>T (p.Leu460Phe)	PRKAR1A, FAM20A (L460F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1074068	NM_017565.4(FAM20A):c.1371del (p.Thr459fs)	FAM20A, PRKAR1A (T321fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1242143	NM_017565.4(FAM20A):c.1362-97G>C	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286088	NM_017565.4(FAM20A):c.1362-263T>C	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2787979	NM_017565.4(FAM20A):c.1361+15A>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	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 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 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 737692	NM_017565.4(FAM20A):c.1314C>T (p.His438=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign/Likely 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 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 1243105	NM_017565.4(FAM20A):c.1302-209G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1975754	NM_017565.4(FAM20A):c.1301+15G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912707	NM_017565.4(FAM20A):c.1301+14C>T	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814671	NM_017565.4(FAM20A):c.1301+8T>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673941	NM_017565.4(FAM20A):c.1301+7T>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1692608	NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser)	PRKAR1A, FAM20A (A294S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 426707	NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr)	PRKAR1A, FAM20A (A432T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1147189	NM_017565.4(FAM20A):c.1293C>T (p.Asn431=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 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)	not provided	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 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 713709	NM_017565.4(FAM20A):c.1240T>C (p.Tyr414His)	FAM20A, PRKAR1A (Y276H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 1691423	NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)	PRKAR1A, FAM20A (R273W +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 781389	NM_017565.4(FAM20A):c.1231C>A (p.Arg411=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2057350	NM_017565.4(FAM20A):c.1220-7_1220-5del	FAM20A, PRKAR1A	Deletion (intron variant)	not provided	GLikely benign
Select item 2122520	NM_017565.4(FAM20A):c.1220-10T>C	PRKAR1A, FAM20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237261	NM_017565.4(FAM20A):c.1220-107_1220-106del	FAM20A, PRKAR1A	Deletion (intron variant)	not provided	GBenign
Select item 1250383	NM_017565.4(FAM20A):c.1220-112C>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289891	NM_017565.4(FAM20A):c.1220-187C>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274794	NM_017565.4(FAM20A):c.1219+241G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1115056	NM_017565.4(FAM20A):c.1219+15G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 873033	NM_017565.4(FAM20A):c.1219+3_1219+6del	FAM20A, PRKAR1A	Microsatellite (intron 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)	not provided +1 more	GUncertain significance
Select item 715537	NM_017565.4(FAM20A):c.1206C>T (p.Phe402=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 35477	NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs)	FAM20A, PRKAR1A (R392fs +1 more)	Deletion (frameshift variant +2 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 949060	NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln)	FAM20A, PRKAR1A (R392Q +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GConflicting classifications of pathogenicity
Select item 1058179	NM_017565.4(FAM20A):c.1174C>T (p.Arg392Trp)	FAM20A, PRKAR1A (R254W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 1473653	NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn)	FAM20A, PRKAR1A (S252N +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GUncertain significance
Select item 1531814	NM_017565.4(FAM20A):c.1166A>G (p.Asn389Ser)	FAM20A, PRKAR1A (N251S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 1544507	NM_017565.4(FAM20A):c.1158G>A (p.Pro386=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1225682	NM_017565.4(FAM20A):c.1110-52G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242114	NM_017565.4(FAM20A):c.1110-196C>T	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289089	NM_017565.4(FAM20A):c.1110-205C>T	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228636	NM_017565.4(FAM20A):c.1110-275C>A	FAM20A, PRKAR1A	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 753963	NM_017565.4(FAM20A):c.1109+10T>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691422	NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC	FAM20A, PRKAR1A	Indel (intron variant)	Amelogenesis imperfecta type 1G	GPathogenic
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 1917502	NM_017565.4(FAM20A):c.1108_1109+1del	FAM20A, PRKAR1A	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 1042445	NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro)	FAM20A, PRKAR1A (L365P +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +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)	not provided	GUncertain significance
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 1447740	NM_017565.4(FAM20A):c.1055G>A (p.Arg352Lys)	FAM20A, PRKAR1A (R214K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2148863	NM_017565.4(FAM20A):c.1035G>A (p.Pro345=)	PRKAR1A, FAM20A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1365049	NM_017565.4(FAM20A):c.1012G>A (p.Gly338Ser)	FAM20A, PRKAR1A (G338S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 260833	NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys)	FAM20A, PRKAR1A (N332K +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign
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 1549902	NM_017565.4(FAM20A):c.984T>C (p.Ala328=)	PRKAR1A, FAM20A	Single nucleotide variant (synonymous variant +2 more)	FAM20A-related condition +2 more	GLikely benign
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 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 2415820	NM_017565.4(FAM20A):c.974C>T (p.Thr325Met)	FAM20A, PRKAR1A (T187M +1 more)	Single nucleotide variant (missense variant +2 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 2846090	NM_017565.4(FAM20A):c.939G>A (p.Val313=)	PRKAR1A, FAM20A	Single nucleotide variant (synonymous variant +2 more)	not provided	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 1390615	NM_017565.4(FAM20A):c.929C>T (p.Ala310Val)	FAM20A, PRKAR1A (A310V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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