ClinVar for MedGen (Select 78675) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25856401.	NM_001378454.1(ALMS1):c.7969_7975del (p.Phe2657fs) GRCh37: Chr2:73717053-73717059 GRCh38: Chr2:73489926-73489932	ALMS1	F2658fs, F2657fs	Alstrom syndrome	Pathogenic	no assertion criteria provided
Select item 25855852.	NM_001378454.1(ALMS1):c.4838del (p.Gly1613fs) GRCh37: Chr2:73678491 GRCh38: Chr2:73451364	ALMS1	G1613fs, G1614fs	Alstrom syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25855763.	NM_001378454.1(ALMS1):c.1451G>T (p.Gly484Val) GRCh37: Chr2:73675108 GRCh38: Chr2:73447978	ALMS1	G485V, G484V	Alstrom syndrome	Uncertain significance	criteria provided, single submitter
Select item 25855374.	NM_001378454.1(ALMS1):c.4792T>A (p.Ser1598Thr) GRCh37: Chr2:73678446 GRCh38: Chr2:73451319	ALMS1	S1599T, S1598T	Alstrom syndrome	Uncertain significance	criteria provided, single submitter
Select item 25846295.	NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly) GRCh37: Chr2:73799832 GRCh38: Chr2:73572705	ALMS1	R3610G, R3611G	Alstrom syndrome	Uncertain significance (Nov 29, 2022)	criteria provided, single submitter
Select item 25843786.	NM_001378454.1(ALMS1):c.9540-2A>G GRCh37: Chr2:73746900 GRCh38: Chr2:73519773	ALMS1		Alstrom syndrome	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 25726207.	NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs) GRCh37: Chr2:73800306-73800309 GRCh38: Chr2:73573179-73573182	ALMS1	T3769fs, T3770fs	Alstrom syndrome	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 25040588.	NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs) GRCh37: Chr2:73717460 GRCh38: Chr2:73490333	ALMS1	R2792fs, R2793fs	Cardiovascular phenotype, Alstrom syndrome	Pathogenic/Likely pathogenic (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25022629.	NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn) GRCh37: Chr2:73836734 GRCh38: Chr2:73609607	ALMS1	D4168N, D4169N	Alstrom syndrome	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 250225010.	NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle) GRCh37: Chr2:73675874-73675875 GRCh38: Chr2:73448747-73448748	ALMS1		Alstrom syndrome	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 250221211.	NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val) GRCh37: Chr2:73635868 GRCh38: Chr2:73408740	ALMS1	D148V, D149V	Alstrom syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 250221112.	NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro) GRCh37: Chr2:73680319 GRCh38: Chr2:73453192	ALMS1	L2222P, L2223P	Alstrom syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 250217213.	NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys) GRCh37: Chr2:73679015 GRCh38: Chr2:73451888	ALMS1	N1787K, N1788K	Alstrom syndrome	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 250216714.	NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys) GRCh37: Chr2:73716903 GRCh38: Chr2:73489776	ALMS1	S2606C, S2607C	Alstrom syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 250215115.	NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp) GRCh37: Chr2:73680229 GRCh38: Chr2:73453102	ALMS1	G2192D, G2193D	Alstrom syndrome	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 244196916.	NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs) GRCh37: Chr2:73677380-73677381 GRCh38: Chr2:73450253-73450254	ALMS1	K1244fs, K1245fs	Alstrom syndrome	Pathogenic (Jun 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 244185217.	NM_001378454.1(ALMS1):c.12400G>A (p.Glu4134Lys) GRCh37: Chr2:73835639 GRCh38: Chr2:73608512	ALMS1	E4134K, E4135K	Alstrom syndrome	Uncertain significance (Nov 7, 2022)	criteria provided, single submitter
Select item 244114018.	NM_001378454.1(ALMS1):c.1150del (p.Arg384fs) GRCh37: Chr2:73651940 GRCh38: Chr2:73424812	ALMS1	R384fs, R385fs	Alstrom syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 243900019.	NM_001378454.1(ALMS1):c.12038G>A (p.Gly4013Asp) GRCh37: Chr2:73828487 GRCh38: Chr2:73601360	ALMS1, LOC126806252	G4013D, G4014D	Alstrom syndrome	Uncertain significance (Sep 4, 2020)	criteria provided, single submitter
Select item 243899920.	NM_001378454.1(ALMS1):c.9748_9749insCTC (p.Val3250delinsAlaLeu) GRCh37: Chr2:73747110-73747111 GRCh38: Chr2:73519983-73519984	ALMS1		Alstrom syndrome	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 243899821.	NM_001378454.1(ALMS1):c.4175A>G (p.Tyr1392Cys) GRCh37: Chr2:73677829 GRCh38: Chr2:73450702	ALMS1	Y1392C, Y1393C	Alstrom syndrome, ALMS1-related condition	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243899722.	NM_001378454.1(ALMS1):c.5912C>A (p.Ser1971Tyr) GRCh37: Chr2:73679566 GRCh38: Chr2:73452439	ALMS1	S1971Y, S1972Y	Alstrom syndrome, ALMS1-related condition	Uncertain significance (May 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 243498623.	NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs) GRCh37: Chr2:73677791-73677794 GRCh38: Chr2:73450664-73450667	ALMS1	S1380fs, S1381fs	Alstrom syndrome	Pathogenic (Nov 22, 2021)	criteria provided, single submitter
Select item 243498324.	NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs) GRCh37: Chr2:73718331 GRCh38: Chr2:73491204	ALMS1	E3082fs, E3083fs	Alstrom syndrome	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 242863525.	NM_001378454.1(ALMS1):c.764+20T>G GRCh37: Chr2:73650122 GRCh38: Chr2:73422994	ALMS1		Alstrom syndrome	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 242828826.	NM_001378454.1(ALMS1):c.6238C>G (p.Leu2080Val) GRCh37: Chr2:73679892 GRCh38: Chr2:73452765	ALMS1	L2080V, L2081V	Alstrom syndrome	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 242818527.	NM_001378454.1(ALMS1):c.6572A>G (p.His2191Arg) GRCh37: Chr2:73680226 GRCh38: Chr2:73453099	ALMS1	H2191R, H2192R	Alstrom syndrome	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 242608128.	NC_000002.11:g.(?_73830348)_(73836739_?)del GRCh37: Chr2:73830348-73836739	ALMS1		Alstrom syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 242608029.	NC_000002.11:g.(?_73761931)_(73762096_?)del GRCh37: Chr2:73761931-73762096	ALMS1		Alstrom syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 242607930.	NC_000002.11:g.(?_73610049)_(73680031_?)del GRCh37: Chr2:73610049-73680031	ALMS1		Alstrom syndrome	Pathogenic (Nov 17, 2021)	criteria provided, single submitter
Select item 242607831.	NC_000002.11:g.(?_73676196)_(73677479_?)del GRCh37: Chr2:73676196-73677479	ALMS1		Alstrom syndrome	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter
Select item 242607732.	NC_000002.11:g.(?_73799369)_(73836739_?)dup GRCh37: Chr2:73799369-73836739	ALMS1		Alstrom syndrome	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 242607633.	NC_000002.11:g.(?_73777384)_(73800561_?)dup GRCh37: Chr2:73777384-73800561	ALMS1		Alstrom syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 242607534.	NC_000002.11:g.(?_73612997)_(73747163_?)dup GRCh37: Chr2:73612997-73747163	ALMS1		Alstrom syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 242607435.	NC_000002.11:g.(?_73799379)_(73800561_?)dup GRCh37: Chr2:73799379-73800561	ALMS1		Alstrom syndrome	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 242607336.	NC_000002.11:g.(?_73675070)_(73682442_?)del GRCh37: Chr2:73675070-73682442	ALMS1		Alstrom syndrome	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 242607237.	NC_000002.11:g.(?_73651548)_(73659429_?)del GRCh37: Chr2:73651548-73659429	ALMS1		Alstrom syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 242607138.	NC_000002.11:g.(?_73646231)_(73659439_?)del GRCh37: Chr2:73646231-73659439	ALMS1		Alstrom syndrome	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 242607039.	NC_000002.11:g.(?_73746892)_(73777574_?)del GRCh37: Chr2:73746892-73777574	ALMS1		Alstrom syndrome	Pathogenic (Nov 22, 2021)	criteria provided, single submitter
Select item 242606940.	NC_000002.11:g.(?_73612987)_(73786279_?)del GRCh37: Chr2:73612987-73786279	ALMS1		Alstrom syndrome	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 242606841.	NC_000002.11:g.(?_73799379)_(73800561_?)del GRCh37: Chr2:73799379-73800561	ALMS1		Alstrom syndrome	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 242606742.	NC_000002.11:g.(?_73777374)_(73777584_?)del GRCh37: Chr2:73777374-73777584	ALMS1		Alstrom syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 242606643.	NC_000002.11:g.(?_73746892)_(73747153_?)del GRCh37: Chr2:73746892-73747153	ALMS1		Alstrom syndrome	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 242519444.	NM_001378454.1(ALMS1):c.6317C>T (p.Pro2106Leu) GRCh37: Chr2:73679971 GRCh38: Chr2:73452844	ALMS1	P2106L, P2107L	Alstrom syndrome	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 242455945.	NM_001378454.1(ALMS1):c.6107A>G (p.Gln2036Arg) GRCh37: Chr2:73679761 GRCh38: Chr2:73452634	ALMS1	Q2036R, Q2037R	Alstrom syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 242388146.	NM_001378454.1(ALMS1):c.7629C>G (p.Ile2543Met) GRCh37: Chr2:73682377 GRCh38: Chr2:73455250	ALMS1	I2543M, I2544M	Alstrom syndrome	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 242172547.	NM_001378454.1(ALMS1):c.6161C>G (p.Pro2054Arg) GRCh37: Chr2:73679815 GRCh38: Chr2:73452688	ALMS1	P2054R, P2055R	Alstrom syndrome	Uncertain significance (Mar 8, 2021)	criteria provided, single submitter
Select item 242110648.	NM_001378454.1(ALMS1):c.6134A>G (p.His2045Arg) GRCh37: Chr2:73679788 GRCh38: Chr2:73452661	ALMS1	H2045R, H2046R	Alstrom syndrome	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 242076849.	NM_001378454.1(ALMS1):c.10381G>A (p.Glu3461Lys) GRCh37: Chr2:73786266 GRCh38: Chr2:73559139	ALMS1	E3461K, E3462K	Cardiovascular phenotype, Alstrom syndrome	Uncertain significance (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 242049750.	NM_001378454.1(ALMS1):c.5330A>G (p.His1777Arg) GRCh37: Chr2:73678984 GRCh38: Chr2:73451857	ALMS1	H1777R, H1778R	Alstrom syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 242047251.	NM_001378454.1(ALMS1):c.10474A>G (p.Ser3492Gly) GRCh37: Chr2:73799478 GRCh38: Chr2:73572351	ALMS1	S3492G, S3493G	Alstrom syndrome	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 242017152.	NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys) GRCh37: Chr2:73613060-73613061 GRCh38: Chr2:73385932-73385933	ALMS1		Alstrom syndrome	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 242004453.	NM_001378454.1(ALMS1):c.1106T>C (p.Val369Ala) GRCh37: Chr2:73651899 GRCh38: Chr2:73424771	ALMS1	V369A, V370A	Alstrom syndrome	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 241956454.	NM_001378454.1(ALMS1):c.8654G>T (p.Arg2885Leu) GRCh37: Chr2:73717740 GRCh38: Chr2:73490613	ALMS1	R2885L, R2886L	Alstrom syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 241889255.	NM_001378454.1(ALMS1):c.9917A>T (p.Asp3306Val) GRCh37: Chr2:73777403 GRCh38: Chr2:73550276	ALMS1	D3306V, D3307V	Alstrom syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 241863056.	NM_001378454.1(ALMS1):c.9696T>C (p.Pro3232=) GRCh37: Chr2:73747058 GRCh38: Chr2:73519931	ALMS1		Cardiovascular phenotype, Alstrom syndrome	Conflicting interpretations of pathogenicity (Apr 5, 2023)	criteria provided, conflicting interpretations
Select item 241854257.	NM_001378454.1(ALMS1):c.564del (p.Ser189fs) GRCh37: Chr2:73646361 GRCh38: Chr2:73419233	ALMS1	S189fs, S190fs	Alstrom syndrome	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 241767858.	NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg) GRCh37: Chr2:73677895 GRCh38: Chr2:73450768	ALMS1	P1414R, P1415R	Alstrom syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 241745659.	NM_001378454.1(ALMS1):c.8021A>G (p.Glu2674Gly) GRCh37: Chr2:73717107 GRCh38: Chr2:73489980	ALMS1	E2674G, E2675G	Alstrom syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 241733660.	NM_001378454.1(ALMS1):c.6856T>C (p.Phe2286Leu) GRCh37: Chr2:73680510 GRCh38: Chr2:73453383	ALMS1	F2286L, F2287L	Alstrom syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 241715461.	NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe) GRCh37: Chr2:73746940 GRCh38: Chr2:73519813	ALMS1	S3193F, S3194F	Alstrom syndrome, not provided	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241697062.	NM_001378454.1(ALMS1):c.8044G>C (p.Glu2682Gln) GRCh37: Chr2:73717130 GRCh38: Chr2:73490003	ALMS1	E2682Q, E2683Q	Alstrom syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 241663963.	NM_001378454.1(ALMS1):c.793G>A (p.Glu265Lys) GRCh37: Chr2:73651586 GRCh38: Chr2:73424458	ALMS1	E265K, E266K	Alstrom syndrome	Uncertain significance (Dec 7, 2020)	criteria provided, single submitter
Select item 241650064.	NM_001378454.1(ALMS1):c.11308G>T (p.Asp3770Tyr) GRCh37: Chr2:73800312 GRCh38: Chr2:73573185	ALMS1	D3770Y, D3771Y	Alstrom syndrome	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 241565665.	NM_001378454.1(ALMS1):c.196G>A (p.Glu66Lys) GRCh37: Chr2:73613192 GRCh38: Chr2:73386064	ALMS1	E66K, E67K	Alstrom syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 241548866.	NM_001378454.1(ALMS1):c.2434T>C (p.Ser812Pro) GRCh37: Chr2:73676088 GRCh38: Chr2:73448961	ALMS1	S812P, S813P	Alstrom syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 241535567.	NM_001378454.1(ALMS1):c.9806A>C (p.Lys3269Thr) GRCh37: Chr2:73761975 GRCh38: Chr2:73534848	ALMS1	K3269T, K3270T	Alstrom syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 241534168.	NM_001378454.1(ALMS1):c.8505A>G (p.Glu2835=) GRCh37: Chr2:73717591 GRCh38: Chr2:73490464	ALMS1		Alstrom syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 241518169.	NM_001378454.1(ALMS1):c.2651C>T (p.Ala884Val) GRCh37: Chr2:73676305 GRCh38: Chr2:73449178	ALMS1	A884V, A885V	Alstrom syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 241516470.	NM_001378454.1(ALMS1):c.2952T>C (p.Ile984=) GRCh37: Chr2:73676606 GRCh38: Chr2:73449479	ALMS1		Alstrom syndrome	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 241476871.	NM_001378454.1(ALMS1):c.10153_10158dup (p.Ala3386_Val3387insArgAla) GRCh37: Chr2:73784418-73784419 GRCh38: Chr2:73557291-73557292	ALMS1		Alstrom syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 241468372.	NM_001378454.1(ALMS1):c.2780T>A (p.Phe927Tyr) GRCh37: Chr2:73676434 GRCh38: Chr2:73449307	ALMS1	F927Y, F928Y	Alstrom syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 241391373.	NM_001378454.1(ALMS1):c.11341T>C (p.Ser3781Pro) GRCh37: Chr2:73800345 GRCh38: Chr2:73573218	ALMS1	S3781P, S3782P	Alstrom syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 241355774.	NM_001378454.1(ALMS1):c.8990A>C (p.Lys2997Thr) GRCh37: Chr2:73718076 GRCh38: Chr2:73490949	ALMS1	K2997T, K2998T	Alstrom syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 220358775.	NM_001378454.1(ALMS1):c.12359A>G (p.Lys4120Arg) GRCh37: Chr2:73830428 GRCh38: Chr2:73603301	ALMS1	K4120R, K4121R	Alstrom syndrome	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 220346276.	NM_001378454.1(ALMS1):c.7000A>G (p.Lys2334Glu) GRCh37: Chr2:73680654 GRCh38: Chr2:73453527	ALMS1	K2334E, K2335E	Alstrom syndrome	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 220310377.	NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter) GRCh37: Chr2:73800006 GRCh38: Chr2:73572879	ALMS1	Q3668, Q3669	Inborn genetic diseases, Alstrom syndrome	Pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220310278.	NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter) GRCh37: Chr2:73718021 GRCh38: Chr2:73490894	ALMS1	Q2979, Q2980	Alstrom syndrome	Pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 220310179.	NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter) GRCh37: Chr2:73717128 GRCh38: Chr2:73490001	ALMS1	S2681, S2682	Alstrom syndrome	Pathogenic (Dec 7, 2021)	criteria provided, single submitter
Select item 220310080.	NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp) GRCh37: Chr2:73716848 GRCh38: Chr2:73489721	ALMS1	R2589W, R2588W	Alstrom syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 220309881.	NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs) GRCh37: Chr2:73676896-73676903 GRCh38: Chr2:73449769-73449776	ALMS1	A1083fs, A1084fs	Alstrom syndrome	Pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 220309782.	NM_001378454.1(ALMS1):c.1786del (p.Glu596fs) GRCh37: Chr2:73675440 GRCh38: Chr2:73448313	ALMS1	E597fs, E596fs	Alstrom syndrome	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 220285383.	NM_001378454.1(ALMS1):c.6788G>A (p.Arg2263Gln) GRCh37: Chr2:73680442 GRCh38: Chr2:73453315	ALMS1	R2263Q, R2264Q	Alstrom syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 220237984.	NM_001378454.1(ALMS1):c.7904A>G (p.Gln2635Arg) GRCh37: Chr2:73716990 GRCh38: Chr2:73489863	ALMS1	Q2635R, Q2636R	Alstrom syndrome	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 220237885.	NM_001378454.1(ALMS1):c.5369G>T (p.Gly1790Val) GRCh37: Chr2:73679023 GRCh38: Chr2:73451896	ALMS1	G1791V, G1790V	Alstrom syndrome	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 220187686.	NM_001378454.1(ALMS1):c.2554G>A (p.Ala852Thr) GRCh37: Chr2:73676208 GRCh38: Chr2:73449081	ALMS1	A853T, A852T	Alstrom syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 220187587.	NM_001378454.1(ALMS1):c.2291A>G (p.Tyr764Cys) GRCh37: Chr2:73675945 GRCh38: Chr2:73448818	ALMS1	Y764C, Y765C	Alstrom syndrome	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 220182088.	NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter) GRCh37: Chr2:73800378 GRCh38: Chr2:73573251	ALMS1	Q3792, Q3793	Alstrom syndrome	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 220179189.	NM_001378454.1(ALMS1):c.5191C>G (p.Leu1731Val) GRCh37: Chr2:73678845 GRCh38: Chr2:73451718	ALMS1	L1731V, L1732V	Alstrom syndrome	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 220163290.	NM_001378454.1(ALMS1):c.4103A>G (p.Asp1368Gly) GRCh37: Chr2:73677757 GRCh38: Chr2:73450630	ALMS1	D1369G, D1368G	Alstrom syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 220157991.	NM_001378454.1(ALMS1):c.10923A>C (p.Thr3641=) GRCh37: Chr2:73799927 GRCh38: Chr2:73572800	ALMS1		Alstrom syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 220137092.	NM_001378454.1(ALMS1):c.5868A>G (p.Pro1956=) GRCh37: Chr2:73679522 GRCh38: Chr2:73452395	ALMS1		Alstrom syndrome	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 220131893.	NM_001378454.1(ALMS1):c.11057A>T (p.His3686Leu) GRCh37: Chr2:73800061 GRCh38: Chr2:73572934	ALMS1	H3686L, H3687L	Alstrom syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 220130094.	NM_001378454.1(ALMS1):c.6923C>A (p.Ser2308Tyr) GRCh37: Chr2:73680577 GRCh38: Chr2:73453450	ALMS1	S2309Y, S2308Y	Alstrom syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 220048595.	NM_001378454.1(ALMS1):c.2616G>A (p.Gln872=) GRCh37: Chr2:73676270 GRCh38: Chr2:73449143	ALMS1		Alstrom syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220030796.	NM_001378454.1(ALMS1):c.4879T>A (p.Phe1627Ile) GRCh37: Chr2:73678533 GRCh38: Chr2:73451406	ALMS1	F1627I, F1628I	Alstrom syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 220022497.	NM_001378454.1(ALMS1):c.3799G>C (p.Val1267Leu) GRCh37: Chr2:73677453 GRCh38: Chr2:73450326	ALMS1	V1268L, V1267L	Alstrom syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 219935698.	NM_001378454.1(ALMS1):c.12185T>C (p.Ile4062Thr) GRCh37: Chr2:73829382 GRCh38: Chr2:73602255	ALMS1, LOC126806252	I4062T, I4063T	Alstrom syndrome	Uncertain significance (Jun 21, 2021)	criteria provided, single submitter
Select item 219935399.	NM_001378454.1(ALMS1):c.4644C>T (p.Leu1548=) GRCh37: Chr2:73678298 GRCh38: Chr2:73451171	ALMS1		Alstrom syndrome	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 2199345100.	NM_001378454.1(ALMS1):c.3701C>T (p.Pro1234Leu) GRCh37: Chr2:73677355 GRCh38: Chr2:73450228	ALMS1	P1234L, P1235L	Alstrom syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter

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