"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ALMS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336999	NM_015120.4(ALMS1):c.-107G>A	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 337000	NM_015120.4(ALMS1):c.-64C>T	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 550712	NM_001378454.1(ALMS1):c.-20G>A	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 997886	NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)	ALMS1 (P3L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1377246	NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp)	ALMS1 (E4D)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 641250	NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser)	ALMS1 (P9S)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 550329	NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser)	ALMS1 (G10S)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 569682	NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GConflicting classifications of pathogenicity
Select item 550448	NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)	ALMS1	Microsatellite (inframe_deletion)	Alstrom syndrome	GConflicting classifications of pathogenicity
Select item 1386743	NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 1312392	NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys)	ALMS1 (E28K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 403920	NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro)	ALMS1 (A36P +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1300306	NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)	ALMS1 (V37L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1326045	NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu)	ALMS1 (V41L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 989562	NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val)	ALMS1 (L54V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1315123	NM_001378454.1(ALMS1):c.176A>T (p.His59Leu)	ALMS1 (H59L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 653536	NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn)	ALMS1 (S68N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 555930	NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1])	ALMS1	Microsatellite (inframe_deletion)	Alstrom syndrome +1 more	GUncertain significance
Select item 1311525	NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys)	ALMS1 (E71K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1509484	NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val)	ALMS1 (A82V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1072559	NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)	ALMS1 (Q95fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 595064	NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)	ALMS1 (P95S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1490902	NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu)	ALMS1 (R103L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 945027	NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)	ALMS1 (K108R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1667300	NM_001378454.1(ALMS1):c.333A>G (p.Pro111=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 1125525	NM_001378454.1(ALMS1):c.339C>T (p.Thr113=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 1422457	NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe)	ALMS1 (C115F +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 753978	NM_001378454.1(ALMS1):c.345T>C (p.His115=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 432725	NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)	ALMS1 (V117I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 550543	NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)	ALMS1 (Q120* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 403945	NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)	ALMS1 (Q120R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 403953	NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs)	ALMS1 (Y123fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 1408422	NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys)	ALMS1 (Y123C +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1204730	NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp)	ALMS1 (R144W +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GUncertain significance
Select item 970146	NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)	ALMS1 (D149N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 391447	NM_001378454.1(ALMS1):c.471T>C (p.Cys157=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 553772	NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr)	ALMS1 (M163T +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1465814	NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu)	ALMS1 (Q167E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 550293	NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met)	ALMS1 (T180M +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 553279	NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala)	ALMS1 (D187A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1479208	NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro)	ALMS1 (S189P +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 570278	NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)	ALMS1 (L191M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 459874	NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)	ALMS1 (T197M +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1300788	NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)	ALMS1 (R207* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 695214	NM_001378454.1(ALMS1):c.646+8C>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 843302	NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)	ALMS1 (I217M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1390221	NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala)	ALMS1 (T231A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 555777	NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)	ALMS1 (E238* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 1416960	NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly)	ALMS1 (S248G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1639965	NM_001378454.1(ALMS1):c.765-15_765-12del	ALMS1	Deletion (intron variant)	Alstrom syndrome	GLikely benign
Select item 551662	NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu)	ALMS1 (D260E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 501075	NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)	ALMS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 598626	NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg)	ALMS1 (S275R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GUncertain significance
Select item 1143961	NM_001378454.1(ALMS1):c.837G>A (p.Gln279=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 385334	NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg)	ALMS1 (S292R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1347416	NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu)	ALMS1 (P299L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 556129	NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)	ALMS1 (G319E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1045996	NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)	ALMS1 (E321K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1352853	NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)	ALMS1 (S326L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 696612	NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 989563	NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys)	ALMS1 (R338C +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1385911	NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln)	ALMS1 (R351Q +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 569551	NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu)	ALMS1 (Q367E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1375397	NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg)	ALMS1 (Q366R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 459847	NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)	ALMS1 (T377S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1386428	NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser)	ALMS1 (T377S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 941316	NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)	ALMS1 (I380T +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1329700	NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly)	ALMS1 (S385G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 999795	NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)	ALMS1 (S385N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 509492	NM_001378454.1(ALMS1):c.1161T>C (p.His387=)	ALMS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 555656	NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)	ALMS1 (T400fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1055674	NM_001378454.1(ALMS1):c.1237+4A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 557489	NM_001378454.1(ALMS1):c.1237+8C>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 529400	NM_001378454.1(ALMS1):c.1238-9A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome +2 more	GLikely benign
Select item 977943	NM_001378454.1(ALMS1):c.1252A>G (p.Lys418Glu)	ALMS1 (K418E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1510732	NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu)	ALMS1 (D422E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1010339	NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)	ALMS1 (I424V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1548707	NM_001378454.1(ALMS1):c.1338+19A>G	ALMS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1204646	NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg)	ALMS1 (T448R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GUncertain significance
Select item 1433836	NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly)	ALMS1 (R449G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1007650	NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)	ALMS1 (E452K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 770323	NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 459854	NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)	ALMS1 (T468I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 459855	NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)	ALMS1 (H475N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 557996	NM_001378454.1(ALMS1):c.1432+7A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 550896	NM_001378454.1(ALMS1):c.1432+15G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 449942	NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)	ALMS1 (G485D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 703209	NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 576016	NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)	ALMS1 (I507F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 517971	NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=)	ALMS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 403950	NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)	ALMS1 (L538V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 808770	NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)	ALMS1 (L543* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 390225	NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile)	ALMS1 (T546I +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 649047	NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val)	ALMS1 (L548V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 989564	NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr)	ALMS1 (A561T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 550029	NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)	ALMS1 (S574G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 422239	NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer)	ALMS1	Indel (inframe_indel)	Alstrom syndrome +1 more	GUncertain significance
Select item 374506	NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)	ALMS1 (R579fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1504489	NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn)	ALMS1 (G613N +1 more)	Indel (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1363871	NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe)	ALMS1 (S619F +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance

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