"Illumina Laboratory Services, Illumina"[submitter] AND "ALMS1"[gene] - ClinVar

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Items: 52

	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 897748	NM_015120.4(ALMS1):c.-91A>G	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 897749	NM_015120.4(ALMS1):c.-78A>G	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 337001	NM_015120.4(ALMS1):c.-53C>T	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 337002	NM_015120.4(ALMS1):c.-48C>T	ALMS1	Single nucleotide variant (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 337003	NM_015120.4(ALMS1):c.-39del	ALMS1	Deletion (5 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 337004	NM_015120.4(ALMS1):c.-39CTC[4]	ALMS1	Microsatellite (5 prime UTR variant)	Alstrom syndrome	GLikely benign
Select item 412658	NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 218713	NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)	ALMS1	Microsatellite (inframe_insertion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193379	NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)	ALMS1	Microsatellite (inframe_insertion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193378	NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)	ALMS1 (E28del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 337007	NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 260567	NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr)	ALMS1 (S224Y +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GBenign/Likely benign
Select item 337008	NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn)	ALMS1 (D423N +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 337009	NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 337010	NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg)	ALMS1 (P448R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337011	NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 35676	NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)	ALMS1 (Y623C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 337012	NM_001378454.1(ALMS1):c.2116A>G (p.Thr706Ala)	ALMS1 (T707A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337013	NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 337014	NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala)	ALMS1 (T1137A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 260563	NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala)	ALMS1 (G1414A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 260564	NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GBenign/Likely benign
Select item 337015	NM_001378454.1(ALMS1):c.5559G>A (p.Gln1853=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 260565	NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu)	ALMS1 (K1875E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 337016	NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp)	ALMS1 (G1928D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GLikely benign
Select item 337017	NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn)	ALMS1 (K1978N +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 337018	NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly)	ALMS1 (D2006G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337019	NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu)	ALMS1 (K2025E +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition +1 more	GUncertain significance
Select item 337020	NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr)	ALMS1 (S2048T +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 337021	NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)	ALMS1 (Q2154R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 337022	NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe)	ALMS1 (L2284F +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337023	NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly)	ALMS1 (D2422G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337024	NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp)	ALMS1 (V2443D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 260569	NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 337025	NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 337026	NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly)	ALMS1 (D2940G +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 337027	NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 337028	NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe)	ALMS1 (S3076F +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337029	NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 337030	NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu)	ALMS1 (K3395E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337031	NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala)	ALMS1 (T3434A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GLikely benign
Select item 337032	NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg)	ALMS1 (Q3610R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 337033	NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys)	ALMS1 (S3870C +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337034	NM_001378454.1(ALMS1):c.11887G>T (p.Val3963Phe)	ALMS1, LOC126806252 (V3964F +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 337035	NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser)	ALMS1, LOC126806252 (P4001S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 337036	NM_001378454.1(ALMS1):c.*105A>G	ALMS1	Single nucleotide variant (3 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 337037	NM_001378454.1(ALMS1):c.*111A>G	ALMS1	Single nucleotide variant (3 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 898298	NM_001378454.1(ALMS1):c.*154G>C	ALMS1	Single nucleotide variant (3 prime UTR variant)	Alstrom syndrome +1 more	GBenign
Select item 337038	NM_001378454.1(ALMS1):c.*209A>G	ALMS1	Single nucleotide variant (3 prime UTR variant)	Alstrom syndrome	GUncertain significance
Select item 337039	NM_001378454.1(ALMS1):c.*267T>A	ALMS1	Single nucleotide variant (3 prime UTR variant)	Alstrom syndrome +1 more	GBenign

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Items: 52