"Blueprint Genetics"[submitter] AND "ALMS1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866803	NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)	ALMS1 (S286* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 865951	NM_001378454.1(ALMS1):c.1008_1009del (p.Cys336_Asp337delinsTer)	ALMS1	Microsatellite (nonsense)	Retinal dystrophy	GPathogenic
Select item 866428	NM_001378454.1(ALMS1):c.1135A>G (p.Asn379Asp)	ALMS1 (N379D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
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 92190	NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer)	ALMS1	Duplication (nonsense)	Alstrom syndrome +1 more	GPathogenic
Select item 866249	NM_001378454.1(ALMS1):c.4498_4499del (p.Leu1500fs)	ALMS1 (L1500fs +1 more)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867044	NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter)	ALMS1 (S1645* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 866267	NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)	ALMS1 (Q1724fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome +3 more	GPathogenic/Likely pathogenic
Select item 866994	NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)	ALMS1 (R1819* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 866498	NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=)	ALMS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 210129	NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)	ALMS1 (R2146* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 550572	NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)	ALMS1	Deletion (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 866836	NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)	ALMS1 (R2512* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +1 more	GPathogenic
Select item 866741	NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)	ALMS1 (R2616W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 552234	NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)	ALMS1	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866226	NM_001378454.1(ALMS1):c.8811T>G (p.Tyr2937Ter)	ALMS1 (Y2937* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866057	NM_001378454.1(ALMS1):c.9084T>A (p.Cys3028Ter)	ALMS1 (C3028* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 556350	NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)	ALMS1 (S3301fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866499	NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val)	ALMS1 (D3514V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3971	NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)	ALMS1 (T3592fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 866528	NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)	ALMS1 (Q3646* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 865872	NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs)	ALMS1 (S3696fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 865871	NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)	ALMS1 (R3805* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 553694	NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)	ALMS1 (S3873fs +1 more)	Microsatellite (frameshift variant)	Alstrom syndrome +2 more	GPathogenic
Select item 550013	NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)	ALMS1 (K3901fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic

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Items: 25