ClinVar for MedGen (Select 78675) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339722	NM_001378454.1(ALMS1):c.5972C>G (p.Ser1991Ter)	ALMS1 (S1991* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 3336676	NM_001378454.1(ALMS1):c.3295C>T (p.Gln1099Ter)	ALMS1 (Q1099* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 3256543	NM_001378454.1(ALMS1):c.5848_5849del (p.Ile1950fs)	ALMS1 (I1950fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 3247165	NC_000002.11:g.(?_73679790)_(73710618_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247164	NC_000002.11:g.(?_73678717)_(73689164_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247163	NC_000002.11:g.(?_73760681)_(73762028_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247162	NC_000002.11:g.(?_73760681)_(73762027_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247161	NC_000002.11:g.(?_73718116)_(73724163_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247159	NC_000002.11:g.(?_73651538)_(73653701_?)dup	ALMS1	Duplication	Alstrom syndrome	GLikely pathogenic
Select item 3247158	NC_000002.11:g.(?_73635730)_(73650122_?)dup	ALMS1	Duplication	Alstrom syndrome	GLikely pathogenic
Select item 3247157	NC_000002.11:g.(?_73716741)_(73762096_?)dup	ALMS1	Duplication	Alstrom syndrome	GLikely pathogenic
Select item 3247156	NC_000002.11:g.(?_73659306)_(73659439_?)dup	ALMS1	Duplication	Alstrom syndrome	GLikely pathogenic
Select item 3247155	NC_000002.11:g.(?_73827785)_(73828583_?)del	ALMS1	Deletion	Alstrom syndrome	GPathogenic
Select item 3247154	NC_000002.11:g.(?_73716741)_(73800571_?)del	ALMS1	Deletion	Alstrom syndrome	GPathogenic
Select item 3247153	NC_000002.11:g.(?_73612997)_(73650122_?)del	ALMS1	Deletion	Alstrom syndrome	GPathogenic
Select item 3247152	NC_000002.11:g.(?_73612997)_(73747163_?)del	ALMS1	Deletion	Alstrom syndrome	GPathogenic
Select item 3242171	NM_001378454.1(ALMS1):c.889C>T (p.Gln297Ter)	ALMS1 (Q297* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 3239688	NM_001378454.1(ALMS1):c.5739del (p.Thr1914fs)	ALMS1 (T1914fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 3239683	NM_001378454.1(ALMS1):c.12456T>G (p.Tyr4152Ter)	ALMS1 (Y4152* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 3236336	NM_001378454.1(ALMS1):c.3853del (p.Ser1285fs)	ALMS1 (S1285fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 3065046	NM_001378454.1(ALMS1):c.3367dup (p.Ile1123fs)	ALMS1 (I1123fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 3023169	NM_001378454.1(ALMS1):c.12441G>A (p.Leu4147=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3022874	NM_001378454.1(ALMS1):c.7675-15G>T	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 3021917	NM_001378454.1(ALMS1):c.7608C>T (p.Asp2536=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3021818	NM_001378454.1(ALMS1):c.1398C>T (p.Asp466=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3021673	NM_001378454.1(ALMS1):c.10214-4G>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 3021425	NM_001378454.1(ALMS1):c.1432+14G>C	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 3020471	NM_001378454.1(ALMS1):c.10490G>A (p.Cys3497Tyr)	ALMS1 (C3498Y +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 3020275	NM_001378454.1(ALMS1):c.10079-15A>T	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 3020164	NM_001378454.1(ALMS1):c.6796T>C (p.Leu2266=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3020111	NM_001378454.1(ALMS1):c.5226T>C (p.Pro1742=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3019940	NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter)	ALMS1 (Q3713* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 3019578	NM_001378454.1(ALMS1):c.9735C>T (p.Ala3245=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3019565	NM_001378454.1(ALMS1):c.1155T>C (p.Ser385=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3019276	NM_001378454.1(ALMS1):c.10213+1G>T	ALMS1	Single nucleotide variant (splice donor variant)	Alstrom syndrome	GLikely pathogenic
Select item 3018893	NM_001378454.1(ALMS1):c.2010A>T (p.Ser670=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3018306	NM_001378454.1(ALMS1):c.5139A>G (p.Ser1713=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3018191	NM_001378454.1(ALMS1):c.1432+2T>C	ALMS1	Single nucleotide variant (splice donor variant)	Alstrom syndrome	GLikely pathogenic
Select item 3018074	NM_001378454.1(ALMS1):c.12217C>T (p.Gln4073Ter)	ALMS1, LOC126806252 (Q4074* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 3017644	NM_001378454.1(ALMS1):c.5922A>G (p.Ala1974=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3017472	NM_001378454.1(ALMS1):c.6525T>G (p.Ala2175=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3017142	NM_001378454.1(ALMS1):c.251C>T (p.Pro84Leu)	ALMS1 (P85L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 3016267	NM_001378454.1(ALMS1):c.2253C>T (p.Asp751=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3015985	NM_001378454.1(ALMS1):c.5790G>A (p.Lys1930=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3015846	NM_001378454.1(ALMS1):c.9108T>C (p.Thr3036=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3015844	NM_001378454.1(ALMS1):c.9507C>T (p.Ser3169=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3015776	NM_001378454.1(ALMS1):c.6918C>T (p.Pro2306=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3015189	NM_001378454.1(ALMS1):c.6777T>C (p.Leu2259=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3014766	NM_001378454.1(ALMS1):c.538_541dup (p.Asp181fs)	ALMS1 (D182fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 3014701	NM_001378454.1(ALMS1):c.663T>C (p.Phe221=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3014381	NM_001378454.1(ALMS1):c.7330C>T (p.Leu2444=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3014070	NM_001378454.1(ALMS1):c.7155A>G (p.Lys2385=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3014054	NM_001378454.1(ALMS1):c.12225G>A (p.Glu4075=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3013785	NM_001378454.1(ALMS1):c.4944T>C (p.Pro1648=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3013731	NM_001378454.1(ALMS1):c.729A>G (p.Leu243=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 3013710	NM_001378454.1(ALMS1):c.9810T>C (p.Pro3270=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3013013	NM_001378454.1(ALMS1):c.7296A>G (p.Leu2432=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3012648	NM_001378454.1(ALMS1):c.10214-5C>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 3012254	NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter)	ALMS1 (Q3667* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 3010750	NM_001378454.1(ALMS1):c.450+10C>T	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 3010495	NM_001378454.1(ALMS1):c.8462A>T (p.His2821Leu)	ALMS1 (H2822L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 3008792	NM_001378454.1(ALMS1):c.6504C>A (p.Ile2168=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3008173	NM_001378454.1(ALMS1):c.10355dup (p.Asn3452fs)	ALMS1 (N3453fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 3007660	NM_001378454.1(ALMS1):c.8061T>A (p.Ala2687=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3006527	NM_001378454.1(ALMS1):c.8796G>A (p.Gln2932=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3006424	NM_001378454.1(ALMS1):c.1365T>C (p.Ser455=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3006254	NM_001378454.1(ALMS1):c.8135C>T (p.Thr2712Ile)	ALMS1 (T2712I +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 3005505	NM_001378454.1(ALMS1):c.11872+17A>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 3005479	NM_001378454.1(ALMS1):c.11304A>G (p.Gln3768=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3005124	NM_001378454.1(ALMS1):c.7620A>G (p.Val2540=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3005106	NM_001378454.1(ALMS1):c.1953T>C (p.Ala651=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3004632	NM_001378454.1(ALMS1):c.5556A>C (p.Pro1852=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3004257	NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter)	ALMS1 (E262* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 3002548	NM_001378454.1(ALMS1):c.11778T>G (p.Thr3926=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 3002137	NM_001378454.1(ALMS1):c.10078+18del	ALMS1	Deletion (intron variant)	Alstrom syndrome	GLikely benign
Select item 3000876	NM_001378454.1(ALMS1):c.3282T>C (p.Ser1094=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2999473	NM_001378454.1(ALMS1):c.7863A>G (p.Ser2621=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2999443	NM_001378454.1(ALMS1):c.11548-11del	ALMS1	Deletion (intron variant)	Alstrom syndrome	GBenign
Select item 2998917	NM_001378454.1(ALMS1):c.1785T>C (p.Thr595=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2996853	NM_001378454.1(ALMS1):c.10461C>A (p.Pro3487=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2996642	NM_001378454.1(ALMS1):c.216G>A (p.Glu72=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2996261	NM_001378454.1(ALMS1):c.4755T>C (p.Phe1585=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2995824	NM_001378454.1(ALMS1):c.324+20G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2995101	NM_001378454.1(ALMS1):c.5313A>G (p.Gln1771=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2994317	NM_001378454.1(ALMS1):c.507T>C (p.Asp169=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2993168	NM_001378454.1(ALMS1):c.3510A>G (p.Lys1170=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2992286	NM_001378454.1(ALMS1):c.2028C>T (p.Leu676=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2990245	NM_001378454.1(ALMS1):c.12020del (p.Gln4007fs)	ALMS1, LOC126806252 (Q4007fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2987797	NM_001378454.1(ALMS1):c.4552A>C (p.Ile1518Leu)	ALMS1 (I1518L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2987635	NM_001378454.1(ALMS1):c.9908-4G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2985739	NM_001378454.1(ALMS1):c.2743dup (p.Ile915fs)	ALMS1 (I915fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2985518	NM_001378454.1(ALMS1):c.324+12C>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2985347	NM_001378454.1(ALMS1):c.468T>C (p.His156=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 2985270	NM_001378454.1(ALMS1):c.6597A>G (p.Ser2199=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2985122	NM_001378454.1(ALMS1):c.5812T>C (p.Leu1938=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2984766	NM_001378454.1(ALMS1):c.9972C>T (p.Leu3324=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2984195	NM_001378454.1(ALMS1):c.3759G>A (p.Leu1253=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2983833	NM_001378454.1(ALMS1):c.4763G>T (p.Gly1588Val)	ALMS1 (G1588V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2983099	NM_001378454.1(ALMS1):c.1237+18T>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2982869	NM_001378454.1(ALMS1):c.3738T>C (p.Gly1246=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign

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