"Myriad Genetics, Inc."[submitter] AND "ALMS1"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725803	NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)	ALMS1 (Q160* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 1726047	NM_001378454.1(ALMS1):c.985G>T (p.Glu329Ter)	ALMS1 (E329* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724152	NM_001378454.1(ALMS1):c.1000A>T (p.Lys334Ter)	ALMS1 (K334* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726784	NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)	ALMS1 (K349* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726501	NM_001378454.1(ALMS1):c.1178C>A (p.Ser393Ter)	ALMS1 (S393* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724775	NM_001378454.1(ALMS1):c.1324G>T (p.Glu442Ter)	ALMS1 (E442* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726311	NM_001378454.1(ALMS1):c.1336A>T (p.Lys446Ter)	ALMS1 (K446* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725339	NM_001378454.1(ALMS1):c.1645G>T (p.Glu549Ter)	ALMS1 (E549* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726626	NM_001378454.1(ALMS1):c.2333T>A (p.Leu778Ter)	ALMS1 (L778* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1723902	NM_001378454.1(ALMS1):c.2590G>T (p.Gly864Ter)	ALMS1 (G864* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726945	NM_001378454.1(ALMS1):c.2686C>T (p.Gln896Ter)	ALMS1 (Q896* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726403	NM_001378454.1(ALMS1):c.2689A>T (p.Lys897Ter)	ALMS1 (K897* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724795	NM_001378454.1(ALMS1):c.3176T>A (p.Leu1059Ter)	ALMS1 (L1059* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725304	NM_001378454.1(ALMS1):c.3778G>T (p.Glu1260Ter)	ALMS1 (E1260* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725830	NM_001378454.1(ALMS1):c.3868A>T (p.Arg1290Ter)	ALMS1 (R1290* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724228	NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)	ALMS1 (G1318* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725263	NM_001378454.1(ALMS1):c.4300A>T (p.Lys1434Ter)	ALMS1 (K1434* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726217	NM_001378454.1(ALMS1):c.4351G>T (p.Glu1451Ter)	ALMS1 (E1451* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725562	NM_001378454.1(ALMS1):c.4960A>T (p.Lys1654Ter)	ALMS1 (K1654* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724738	NM_001378454.1(ALMS1):c.5239C>T (p.Gln1747Ter)	ALMS1 (Q1747* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726779	NM_001378454.1(ALMS1):c.5553C>A (p.Tyr1851Ter)	ALMS1 (Y1851* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724298	NM_001378454.1(ALMS1):c.5560A>T (p.Arg1854Ter)	ALMS1 (R1854* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724389	NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)	ALMS1 (K1874* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 1724580	NM_001378454.1(ALMS1):c.5653A>T (p.Lys1885Ter)	ALMS1 (K1885* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726827	NM_001378454.1(ALMS1):c.5830A>T (p.Arg1944Ter)	ALMS1 (R1944* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726589	NM_001378454.1(ALMS1):c.5903C>A (p.Ser1968Ter)	ALMS1 (S1968* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724372	NM_001378454.1(ALMS1):c.5929A>T (p.Lys1977Ter)	ALMS1 (K1977* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725800	NM_001378454.1(ALMS1):c.5964C>A (p.Tyr1988Ter)	ALMS1 (Y1988* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1421573	NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)	ALMS1 (S1989* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic/Likely pathogenic
Select item 1725524	NM_001378454.1(ALMS1):c.5977A>T (p.Lys1993Ter)	ALMS1 (K1993* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726857	NM_001378454.1(ALMS1):c.6070A>T (p.Lys2024Ter)	ALMS1 (K2024* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725662	NM_001378454.1(ALMS1):c.6175C>T (p.Gln2059Ter)	ALMS1 (Q2059* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724581	NM_001378454.1(ALMS1):c.6205A>T (p.Lys2069Ter)	ALMS1 (K2069* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726738	NM_001378454.1(ALMS1):c.6487G>T (p.Glu2163Ter)	ALMS1 (E2163* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726749	NM_001378454.1(ALMS1):c.6910A>T (p.Lys2304Ter)	ALMS1 (K2304* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725674	NM_001378454.1(ALMS1):c.7544G>A (p.Trp2515Ter)	ALMS1 (W2515* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726438	NM_001378454.1(ALMS1):c.7777G>T (p.Glu2593Ter)	ALMS1 (E2593* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726683	NM_001378454.1(ALMS1):c.7806T>A (p.Cys2602Ter)	ALMS1 (C2602* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726892	NM_001378454.1(ALMS1):c.7898T>A (p.Leu2633Ter)	ALMS1 (L2633* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726721	NM_001378454.1(ALMS1):c.8077G>T (p.Glu2693Ter)	ALMS1 (E2693* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724824	NM_001378454.1(ALMS1):c.8435T>A (p.Leu2812Ter)	ALMS1 (L2812* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724576	NM_001378454.1(ALMS1):c.8490T>A (p.Cys2830Ter)	ALMS1 (C2830* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1723920	NM_001378454.1(ALMS1):c.9064C>T (p.Gln3022Ter)	ALMS1 (Q3022* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725251	NM_001378454.1(ALMS1):c.9121A>T (p.Arg3041Ter)	ALMS1 (R3041* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725965	NM_001378454.1(ALMS1):c.9226A>T (p.Lys3076Ter)	ALMS1 (K3076* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724256	NM_001378454.1(ALMS1):c.9427A>T (p.Lys3143Ter)	ALMS1 (K3143* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726568	NM_001378454.1(ALMS1):c.9823A>T (p.Lys3275Ter)	ALMS1 (K3275* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726866	NM_001378454.1(ALMS1):c.9850C>T (p.Gln3284Ter)	ALMS1 (Q3284* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724702	NM_001378454.1(ALMS1):c.10121C>A (p.Ser3374Ter)	ALMS1 (S3374* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724285	NM_001378454.1(ALMS1):c.10288A>T (p.Lys3430Ter)	ALMS1 (K3430* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1725991	NM_001378454.1(ALMS1):c.10321A>T (p.Lys3441Ter)	ALMS1 (K3441* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726575	NM_001378454.1(ALMS1):c.10346G>A (p.Trp3449Ter)	ALMS1 (W3449* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724467	NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)	ALMS1 (E3468* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1724237	NM_001378454.1(ALMS1):c.10798G>T (p.Glu3600Ter)	ALMS1 (E3600* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726457	NM_001378454.1(ALMS1):c.10874T>A (p.Leu3625Ter)	ALMS1 (L3625* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726304	NM_001378454.1(ALMS1):c.10984G>T (p.Glu3662Ter)	ALMS1 (E3662* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726315	NM_001378454.1(ALMS1):c.11943T>A (p.Cys3981Ter)	ALMS1, LOC126806252 (C3981* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 1726480	NM_001378454.1(ALMS1):c.12193G>T (p.Glu4065Ter)	LOC126806252, ALMS1 (E4065* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic

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Items: 58