Related gene-specific medical variations for Gene (Select 4643) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2883675	NM_004998.4(MYO1E):c.3208C>G (p.Leu1070Val)	LOC112272600, MYO1E (L1070V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 2481490	NM_033195.3(LDHAL6B):c.532C>T (p.Pro178Ser)	LDHAL6B, MYO1E (P178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470438	NM_033195.3(LDHAL6B):c.67T>C (p.Cys23Arg)	LDHAL6B, MYO1E (C23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461889	NM_033195.3(LDHAL6B):c.134C>T (p.Thr45Ile)	LDHAL6B, MYO1E (T45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2433966	NM_004998.4(MYO1E):c.1080C>T (p.His360=)	MYO1E	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 2411189	NM_033195.3(LDHAL6B):c.853G>A (p.Ala285Thr)	LDHAL6B, MYO1E (A285T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410912	NM_033195.3(LDHAL6B):c.436G>A (p.Gly146Ser)	LDHAL6B, MYO1E (G146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394089	NM_033195.3(LDHAL6B):c.404C>T (p.Thr135Ile)	LDHAL6B, MYO1E (T135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393421	NM_033195.3(LDHAL6B):c.928G>C (p.Glu310Gln)	LDHAL6B, MYO1E (E310Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388402	NM_004998.4(MYO1E):c.3101G>A (p.Ser1034Asn)	LOC112272600, MYO1E (S1034N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380632	NM_033195.3(LDHAL6B):c.230C>G (p.Thr77Ser)	LDHAL6B, MYO1E (T77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367581	NM_033195.3(LDHAL6B):c.367A>C (p.Met123Leu)	LDHAL6B, MYO1E (M123L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346202	NM_033195.3(LDHAL6B):c.658C>T (p.Arg220Cys)	LDHAL6B, MYO1E (R220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344928	NM_033195.3(LDHAL6B):c.929A>C (p.Glu310Ala)	LDHAL6B, MYO1E (E310A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314509	NM_033195.3(LDHAL6B):c.121A>T (p.Thr41Ser)	LDHAL6B, MYO1E (T41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298126	NM_004998.4(MYO1E):c.3116C>G (p.Ala1039Gly)	LOC112272600, MYO1E (A1039G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292805	NM_033195.3(LDHAL6B):c.349G>A (p.Gly117Ser)	LDHAL6B, MYO1E (G117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271811	NM_033195.3(LDHAL6B):c.1049C>A (p.Thr350Asn)	LDHAL6B, MYO1E (T350N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257586	NM_033195.3(LDHAL6B):c.178C>T (p.Arg60Cys)	LDHAL6B, MYO1E (R60C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234144	NM_004998.4(MYO1E):c.3151C>T (p.Pro1051Ser)	LOC112272600, MYO1E (P1051S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204200	NM_033195.3(LDHAL6B):c.353G>A (p.Ser118Asn)	LDHAL6B, MYO1E (S118N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2176886	NM_004998.4(MYO1E):c.3084C>A (p.Val1028=)	LOC112272600, MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161993	NM_004998.4(MYO1E):c.3189C>T (p.Asp1063=)	LOC112272600, MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132221	NM_004998.4(MYO1E):c.3142A>C (p.Lys1048Gln)	LOC112272600, MYO1E (K1048Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070362	NM_004998.4(MYO1E):c.3235G>T (p.Asp1079Tyr)	MYO1E, LOC112272600 (D1079Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062090	NM_004998.4(MYO1E):c.3224A>G (p.Asn1075Ser)	MYO1E, LOC112272600 (N1075S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801428	NM_004998.4(MYO1E):c.3081-906_3081-872del	MYO1E	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1588695	NM_004998.4(MYO1E):c.3236A>G (p.Asp1079Gly)	LOC112272600, MYO1E (D1079G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1519987	NM_004998.4(MYO1E):c.3118G>C (p.Gly1040Arg)	LOC112272600, MYO1E (G1040R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1457625	NM_004998.4(MYO1E):c.3081-6C>T	LOC112272600, MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1344757	NM_004998.4(MYO1E):c.1978C>T (p.Gln660Ter)	MYO1E (Q660*)	Single nucleotide variant (nonsense)	Nephrotic syndrome	GLikely pathogenic
Select item 1344752	NM_004998.4(MYO1E):c.1228G>A (p.Glu410Lys)	MYO1E (E410K)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1319060	NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp)	MYO1E (E731D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301673	NM_033195.3(LDHAL6B):c.475G>C (p.Val159Leu)	LDHAL6B, MYO1E (V159L)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 6	GLikely benign
Select item 1287059	NM_033195.3(LDHAL6B):c.*292T>C	LDHAL6B, MYO1E	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1195188	NM_033195.3(LDHAL6B):c.*453G>C	LDHAL6B, MYO1E	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 988197	NM_004998.4(MYO1E):c.3094_3097del (p.Thr1032fs)	MYO1E, LOC112272600 (T1032fs)	Microsatellite (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 796253	NM_004998.4(MYO1E):c.3144G>A (p.Lys1048=)	LOC112272600, MYO1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591901	NM_004998.4(MYO1E):c.3141_3152del (p.Lys1048_Pro1051del)	LOC112272600, MYO1E	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591884	NM_004998.4(MYO1E):c.386T>C (p.Ile129Thr)	MYO1E (I129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591186	NM_004998.4(MYO1E):c.1669C>T (p.Arg557Cys)	MYO1E (R557C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500039	NM_004998.4(MYO1E):c.3146C>A (p.Pro1049His)	LOC112272600, MYO1E (P1049H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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Items: 71