ClinVar for Gene (Select 4643) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372390	NM_004998.4(MYO1E):c.1672C>G (p.Pro558Ala)	MYO1E (P558A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297810	NM_004998.4(MYO1E):c.1250T>C (p.Ile417Thr)	MYO1E (I417T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297809	NM_004998.4(MYO1E):c.2620A>G (p.Ser874Gly)	MYO1E (S874G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3297808	NM_004998.4(MYO1E):c.3103C>T (p.Arg1035Trp)	LOC112272600, MYO1E (R1035W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297807	NM_004998.4(MYO1E):c.254C>T (p.Pro85Leu)	MYO1E (P85L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297806	NM_004998.4(MYO1E):c.2683C>T (p.Arg895Trp)	MYO1E (R895W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297805	NM_004998.4(MYO1E):c.904G>C (p.Glu302Gln)	MYO1E (E302Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290374	NM_033195.3(LDHAL6B):c.312A>T (p.Glu104Asp)	LDHAL6B, MYO1E (E104D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290373	NM_033195.3(LDHAL6B):c.101C>T (p.Thr34Met)	LDHAL6B, MYO1E (T34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290372	NM_033195.3(LDHAL6B):c.631G>C (p.Gly211Arg)	LDHAL6B, MYO1E (G211R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290371	NM_033195.3(LDHAL6B):c.108C>G (p.Ile36Met)	LDHAL6B, MYO1E (I36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290370	NM_033195.3(LDHAL6B):c.1128G>C (p.Gln376His)	LDHAL6B, MYO1E (Q376H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290369	NM_033195.3(LDHAL6B):c.956T>C (p.Ile319Thr)	LDHAL6B, MYO1E (I319T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3290368	NM_033195.3(LDHAL6B):c.1100A>G (p.Lys367Arg)	LDHAL6B, MYO1E (K367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290367	NM_033195.3(LDHAL6B):c.442C>T (p.Arg148Cys)	LDHAL6B, MYO1E (R148C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290364	NM_033195.3(LDHAL6B):c.107T>C (p.Ile36Thr)	LDHAL6B, MYO1E (I36T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163691	NM_004998.4(MYO1E):c.96G>T (p.Glu32Asp)	MYO1E (E32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163688	NM_004998.4(MYO1E):c.938G>A (p.Gly313Glu)	MYO1E (G313E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163649	NM_004998.4(MYO1E):c.421C>T (p.His141Tyr)	MYO1E (H141Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163643	NM_004998.4(MYO1E):c.40C>T (p.His14Tyr)	MYO1E (H14Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163633	NM_004998.4(MYO1E):c.3308A>G (p.Asn1103Ser)	MYO1E (N1103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163620	NM_004998.4(MYO1E):c.3112C>A (p.Pro1038Thr)	LOC112272600, MYO1E (P1038T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163619	NM_004998.4(MYO1E):c.3094A>C (p.Thr1032Pro)	LOC112272600, MYO1E (T1032P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163611	NM_004998.4(MYO1E):c.3010A>C (p.Ser1004Arg)	MYO1E (S1004R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163605	NM_004998.4(MYO1E):c.2995C>G (p.Arg999Gly)	MYO1E (R999G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163600	NM_004998.4(MYO1E):c.2915T>C (p.Val972Ala)	MYO1E (V972A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163578	NM_004998.4(MYO1E):c.241C>A (p.Gln81Lys)	MYO1E (Q81K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163574	NM_004998.4(MYO1E):c.2405G>A (p.Gly802Asp)	MYO1E (G802D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163571	NM_004998.4(MYO1E):c.2299G>C (p.Ala767Pro)	MYO1E (A767P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163567	NM_004998.4(MYO1E):c.2192A>G (p.Glu731Gly)	MYO1E (E731G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163563	NM_004998.4(MYO1E):c.1945G>A (p.Gly649Arg)	MYO1E (G649R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163558	NM_004998.4(MYO1E):c.1874A>G (p.Tyr625Cys)	MYO1E (Y625C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163527	NM_004998.4(MYO1E):c.1466T>C (p.Ile489Thr)	MYO1E (I489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118236	NM_033195.3(LDHAL6B):c.995T>C (p.Ile332Thr)	LDHAL6B, MYO1E (I332T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118235	NM_033195.3(LDHAL6B):c.924A>T (p.Leu308Phe)	LDHAL6B, MYO1E (L308F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118234	NM_033195.3(LDHAL6B):c.782A>G (p.Lys261Arg)	LDHAL6B, MYO1E (K261R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118233	NM_033195.3(LDHAL6B):c.754G>A (p.Gly252Arg)	LDHAL6B, MYO1E (G252R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118232	NM_033195.3(LDHAL6B):c.669T>G (p.Ile223Met)	LDHAL6B, MYO1E (I223M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118231	NM_033195.3(LDHAL6B):c.356C>G (p.Pro119Arg)	LDHAL6B, MYO1E (P119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118230	NM_033195.3(LDHAL6B):c.347A>G (p.His116Arg)	LDHAL6B, MYO1E (H116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118229	NM_033195.3(LDHAL6B):c.230C>A (p.Thr77Asn)	LDHAL6B, MYO1E (T77N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118228	NM_033195.3(LDHAL6B):c.224T>C (p.Ile75Thr)	LDHAL6B, MYO1E (I75T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118227	NM_033195.3(LDHAL6B):c.116A>G (p.Asn39Ser)	LDHAL6B, MYO1E (N39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118226	NM_033195.3(LDHAL6B):c.1057A>G (p.Ile353Val)	LDHAL6B, MYO1E (I353V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065900	NM_004998.4(MYO1E):c.2062G>C (p.Glu688Gln)	MYO1E (E688Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 3061884	NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu)	MYO1E (G649E)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 3058806	NM_004998.4(MYO1E):c.3251-3C>T	MYO1E	Single nucleotide variant (intron variant)	MYO1E-related disorder	GLikely benign
Select item 3055493	NM_004998.4(MYO1E):c.1356C>T (p.Asn452=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related disorder	GLikely benign
Select item 3054339	NM_004998.4(MYO1E):c.2985G>A (p.Pro995=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related disorder	GLikely benign
Select item 3048782	NM_004998.4(MYO1E):c.1416G>A (p.Ala472=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related disorder	GLikely benign
Select item 3047083	NM_004998.4(MYO1E):c.1998C>T (p.Ser666=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related disorder	GLikely benign
Select item 3046369	NM_004998.4(MYO1E):c.720C>T (p.Leu240=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related disorder	GLikely benign
Select item 3042804	NM_004998.4(MYO1E):c.976C>T (p.Arg326Trp)	MYO1E (R326W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 3035865	NM_004998.4(MYO1E):c.645C>T (p.Leu215=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related disorder	GLikely benign
Select item 3035482	NM_004998.4(MYO1E):c.1032C>T (p.Asn344=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related disorder	GLikely benign
Select item 3032100	NM_004998.4(MYO1E):c.511-12_511-10del	MYO1E	Deletion (intron variant)	MYO1E-related disorder	GLikely benign
Select item 3029361	NM_004998.4(MYO1E):c.420+9G>A	MYO1E	Single nucleotide variant (intron variant)	MYO1E-related disorder	GLikely benign
Select item 3021948	NM_004998.4(MYO1E):c.778-15del	MYO1E	Deletion (intron variant)	not provided	GLikely benign
Select item 3011782	NM_004998.4(MYO1E):c.1086G>T (p.Arg362=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007992	NM_004998.4(MYO1E):c.2628-6T>C	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994089	NM_004998.4(MYO1E):c.2627+1G>A	MYO1E	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2989839	NM_004998.4(MYO1E):c.1362+15A>T	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983683	NM_004998.4(MYO1E):c.516A>G (p.Lys172=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980334	NM_004998.4(MYO1E):c.1849C>T (p.Arg617Ter)	MYO1E (R617*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2978042	NM_004998.4(MYO1E):c.469G>A (p.Gly157Arg)	MYO1E (G157R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974768	NM_004998.4(MYO1E):c.1108-9T>G	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973769	NM_004998.4(MYO1E):c.1868A>G (p.Tyr623Cys)	MYO1E (Y623C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968957	NM_004998.4(MYO1E):c.777+15del	MYO1E	Deletion (intron variant)	not provided	GLikely benign
Select item 2968956	NM_004998.4(MYO1E):c.777+17G>T	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968900	NM_004998.4(MYO1E):c.1805+14C>T	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901570	NM_004998.4(MYO1E):c.483C>T (p.Thr161=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886560	NM_004998.4(MYO1E):c.1077G>A (p.Leu359=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884551	NM_004998.4(MYO1E):c.1446C>G (p.Leu482=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883675	NM_004998.4(MYO1E):c.3208C>G (p.Leu1070Val)	LOC112272600, MYO1E (L1070V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883277	NM_004998.4(MYO1E):c.1905-10G>A	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879575	NM_004998.4(MYO1E):c.510+7C>G	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863446	NM_004998.4(MYO1E):c.2879-12T>C	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842581	NM_004998.4(MYO1E):c.1531-18C>T	MYO1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800339	NM_004998.4(MYO1E):c.441G>T (p.Leu147=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759822	NM_004998.4(MYO1E):c.2383G>A (p.Gly795Arg)	MYO1E (G795R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2712378	NM_004998.4(MYO1E):c.1029C>T (p.Leu343=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710772	NM_004998.4(MYO1E):c.519C>T (p.Tyr173=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700460	NM_004998.4(MYO1E):c.3281G>T (p.Arg1094Leu)	MYO1E (R1094L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2645383	NM_004998.4(MYO1E):c.2627+1G>T	MYO1E	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2614684	NM_033195.3(LDHAL6B):c.817C>T (p.Pro273Ser)	MYO1E, LDHAL6B (P273S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611146	NM_033195.3(LDHAL6B):c.185C>A (p.Thr62Asn)	LDHAL6B, MYO1E (T62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609094	NM_004998.4(MYO1E):c.1061C>T (p.Ala354Val)	MYO1E (A354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582452	NM_004998.4(MYO1E):c.1085G>A (p.Arg362Gln)	MYO1E (R362Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 2543850	NM_004998.4(MYO1E):c.979C>A (p.Gln327Lys)	MYO1E (Q327K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541487	NM_004998.4(MYO1E):c.811G>C (p.Glu271Gln)	MYO1E (E271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530436	NM_004998.4(MYO1E):c.781G>A (p.Ala261Thr)	MYO1E (A261T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529033	NM_004998.4(MYO1E):c.101C>T (p.Ser34Phe)	MYO1E (S34F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523928	NM_004998.4(MYO1E):c.1081G>A (p.Ala361Thr)	MYO1E (A361T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521637	NM_033195.3(LDHAL6B):c.614A>G (p.Asn205Ser)	LDHAL6B, MYO1E (N205S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514660	NM_004998.4(MYO1E):c.2342A>G (p.Lys781Arg)	MYO1E (K781R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513423	NM_004998.4(MYO1E):c.649G>A (p.Glu217Lys)	MYO1E (E217K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509032	NM_033195.3(LDHAL6B):c.26G>A (p.Arg9Gln)	LDHAL6B, MYO1E (R9Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502729	NM_004998.4(MYO1E):c.1019A>G (p.His340Arg)	MYO1E (H340R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500430	NM_004998.4(MYO1E):c.141C>G (p.Tyr47Ter)	MYO1E (Y47*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 6 +1 more	GPathogenic

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