"Counsyl"[submitter] AND "ALMS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550712	NM_001378454.1(ALMS1):c.-20G>A	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 555950	NM_001378454.1(ALMS1):c.-19C>T	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 551334	NM_001378454.1(ALMS1):c.-16A>G	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 551895	NM_001378454.1(ALMS1):c.-12C>G	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 558357	NM_001378454.1(ALMS1):c.-8dup	ALMS1	Duplication (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 554023	NM_001378454.1(ALMS1):c.-9G>A	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 558182	NM_001378454.1(ALMS1):c.-7C>T	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 554938	NM_001378454.1(ALMS1):c.-1C>T	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 553897	NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del)	ALMS1	Deletion (inframe_deletion +1 more)	Alstrom syndrome	GLikely pathogenic
Select item 551649	NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)	ALMS1 (M1R)	Single nucleotide variant (missense variant +1 more)	Alstrom syndrome	GLikely pathogenic
Select item 554597	NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter)	ALMS1 (E4*)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 558032	NM_001378454.1(ALMS1):c.20del (p.Pro7fs)	ALMS1 (P7fs)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic/Likely pathogenic
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 552890	NM_001378454.1(ALMS1):c.32dup (p.Leu12fs)	ALMS1 (L12fs)	Duplication (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 551734	NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu14_Glu15insValGluGluGlu)	ALMS1	Duplication (inframe_insertion)	Alstrom syndrome	GUncertain significance
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 552898	NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu14_Glu15insGly)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 556160	NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 555530	NM_001378454.1(ALMS1):c.51G>A (p.Glu17=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 554376	NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys)	ALMS1 (E20K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 550399	NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GConflicting classifications of pathogenicity
Select item 552168	NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 557420	NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 552916	NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 556472	NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 551340	NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 555596	NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 557641	NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu24_Glu25insAsp)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 556056	NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup)	ALMS1	Duplication (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 555828	NM_001378454.1(ALMS1):c.72G>A (p.Glu24=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 557066	NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu25_Glu26insArgLys)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 551063	NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 550960	NM_001378454.1(ALMS1):c.90_92del (p.Ala35del)	ALMS1 (A36del +1 more)	Deletion (inframe_deletion)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 403944	NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 337007	NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 557538	NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3])	ALMS1	Duplication (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 552547	NM_001378454.1(ALMS1):c.137_139del (p.Val46del)	ALMS1 (V47del +1 more)	Deletion (inframe_deletion)	Alstrom syndrome	GUncertain significance
Select item 555236	NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)	ALMS1 (L55* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 558126	NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs)	ALMS1 (Q64fs +1 more)	Indel (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 552318	NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet)	ALMS1	Deletion (inframe_indel)	not provided +1 more	GUncertain significance
Select item 553984	NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3])	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome +1 more	GUncertain significance
Select item 552338	NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 554012	NM_001378454.1(ALMS1):c.234C>G (p.Ala78=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 556723	NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)	ALMS1 (Q96* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552251	NM_001378454.1(ALMS1):c.284dup (p.His96fs)	ALMS1 (H97fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 556678	NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter)	ALMS1 (S100* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 555435	NM_001378454.1(ALMS1):c.324+4A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 555541	NM_001378454.1(ALMS1):c.324+7C>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 557845	NM_001378454.1(ALMS1):c.324+10G>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 552766	NM_001378454.1(ALMS1):c.324+12C>T	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 551048	NM_001378454.1(ALMS1):c.324+14G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 558313	NM_001378454.1(ALMS1):c.324+16G>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 558122	NM_001378454.1(ALMS1):c.324+16G>T	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 553555	NM_001378454.1(ALMS1):c.324+18G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 557101	NM_001378454.1(ALMS1):c.325-15_325-13del	ALMS1	Deletion (intron variant)	Alstrom syndrome	GUncertain significance
Select item 554609	NM_001378454.1(ALMS1):c.325-8A>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GConflicting classifications of pathogenicity
Select item 552856	NM_001378454.1(ALMS1):c.325-6T>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GConflicting classifications of pathogenicity
Select item 558064	NM_001378454.1(ALMS1):c.325-1G>A	ALMS1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 550073	NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala)	ALMS1 (V111A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	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 557521	NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)	ALMS1 (I120fs)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 557023	NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 551364	NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del)	ALMS1 (S127del +1 more)	Microsatellite (inframe_deletion)	Alstrom syndrome +1 more	GUncertain significance
Select item 551028	NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)	ALMS1 (Q144* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 556924	NM_001378454.1(ALMS1):c.450+3A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 551328	NM_001378454.1(ALMS1):c.450+7C>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 553219	NM_001378454.1(ALMS1):c.450+11T>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 552625	NM_001378454.1(ALMS1):c.450+11T>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 553376	NM_001378454.1(ALMS1):c.450+12G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 552497	NM_001378454.1(ALMS1):c.450+19G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 552919	NM_001378454.1(ALMS1):c.450+22_450+25del	ALMS1	Deletion (intron variant)	Alstrom syndrome	GLikely benign
Select item 555924	NM_001378454.1(ALMS1):c.450+24_450+40del	ALMS1	Deletion (intron variant)	Alstrom syndrome	GLikely benign
Select item 556162	NM_001378454.1(ALMS1):c.451-20T>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 552007	NM_001378454.1(ALMS1):c.451-19T>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 551738	NM_001378454.1(ALMS1):c.451-16T>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 557736	NM_001378454.1(ALMS1):c.451-12A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 529408	NM_001378454.1(ALMS1):c.451-5T>G	ALMS1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 550443	NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys)	ALMS1 (W156C +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
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 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 550963	NM_001378454.1(ALMS1):c.591A>G (p.Gln197=)	ALMS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 551044	NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)	ALMS1 (Q202E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 549975	NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del)	ALMS1	Deletion (inframe_deletion)	Alstrom syndrome	GUncertain significance
Select item 552482	NM_001378454.1(ALMS1):c.646+4A>T	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 553764	NM_001378454.1(ALMS1):c.646+5T>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 556552	NM_001378454.1(ALMS1):c.646+8C>T	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 556384	NM_001378454.1(ALMS1):c.646+10G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 554987	NM_001378454.1(ALMS1):c.647-19_647-18insT	ALMS1	Insertion (intron variant)	Alstrom syndrome	GLikely benign
Select item 558420	NM_001378454.1(ALMS1):c.647-5T>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 553969	NM_001378454.1(ALMS1):c.647-4A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GConflicting classifications of pathogenicity
Select item 554272	NM_001378454.1(ALMS1):c.695dup (p.Leu232fs)	ALMS1 (L233fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GLikely pathogenic
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 549958	NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)	ALMS1 (A240V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 551141	NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 554157	NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)	ALMS1 (A253fs +1 more)	Insertion (frameshift variant)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 423981	NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser)	ALMS1 (P254S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 553430	NM_001378454.1(ALMS1):c.764+3A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 558065	NM_001378454.1(ALMS1):c.764+4G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance

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