"Ambry Genetics"[submitter] AND "MYO1E"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 120

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2146915	NM_004998.4(MYO1E):c.3269C>T (p.Thr1090Met)	MYO1E (T1090M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 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 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 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 2360010	NM_004998.4(MYO1E):c.3073G>A (p.Ala1025Thr)	MYO1E (A1025T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464601	NM_004998.4(MYO1E):c.3062C>T (p.Pro1021Leu)	MYO1E (P1021L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1912733	NM_004998.4(MYO1E):c.3035C>T (p.Pro1012Leu)	MYO1E (P1012L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2208251	NM_004998.4(MYO1E):c.3020G>C (p.Arg1007Pro)	MYO1E (R1007P)	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 1990349	NM_004998.4(MYO1E):c.2995C>T (p.Arg999Trp)	MYO1E (R999W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2303573	NM_004998.4(MYO1E):c.2951A>G (p.Asn984Ser)	MYO1E (N984S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2478069	NM_004998.4(MYO1E):c.2852C>T (p.Pro951Leu)	MYO1E (P951L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312437	NM_004998.4(MYO1E):c.2715C>A (p.Asp905Glu)	MYO1E (D905E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142926	NM_004998.4(MYO1E):c.2702A>C (p.Gln901Pro)	MYO1E (Q901P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2336148	NM_004998.4(MYO1E):c.2672C>T (p.Ala891Val)	MYO1E (A891V)	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 2378832	NM_004998.4(MYO1E):c.2597A>G (p.Gln866Arg)	MYO1E (Q866R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1515805	NM_004998.4(MYO1E):c.2584G>A (p.Glu862Lys)	MYO1E (E862K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2312622	NM_004998.4(MYO1E):c.2531T>G (p.Leu844Trp)	MYO1E (L844W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974434	NM_004998.4(MYO1E):c.2481-12A>G	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 2490692	NM_004998.4(MYO1E):c.2476C>T (p.Leu826Phe)	MYO1E (L826F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1000300	NM_004998.4(MYO1E):c.2470G>C (p.Val824Leu)	MYO1E (V824L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +2 more	GUncertain significance
Select item 1404370	NM_004998.4(MYO1E):c.2459G>A (p.Arg820Gln)	MYO1E (R820Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2514660	NM_004998.4(MYO1E):c.2342A>G (p.Lys781Arg)	MYO1E (K781R)	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 1024736	NM_004998.4(MYO1E):c.2246A>T (p.Glu749Val)	MYO1E (E749V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2273663	NM_004998.4(MYO1E):c.1871C>T (p.Ala624Val)	MYO1E (A624V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1019283	NM_004998.4(MYO1E):c.1747T>C (p.Tyr583His)	MYO1E (Y583H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1001311	NM_004998.4(MYO1E):c.1713C>G (p.Asp571Glu)	MYO1E (D571E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509550	NM_004998.4(MYO1E):c.1644A>C (p.Glu548Asp)	MYO1E (E548D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2328090	NM_004998.4(MYO1E):c.1639C>T (p.Pro547Ser)	MYO1E (P547S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460893	NM_004998.4(MYO1E):c.1624A>G (p.Ile542Val)	MYO1E (I542V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1429478	NM_004998.4(MYO1E):c.1618C>G (p.Pro540Ala)	MYO1E (P540A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1013686	NM_004998.4(MYO1E):c.1618C>A (p.Pro540Thr)	MYO1E (P540T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2407888	NM_004998.4(MYO1E):c.1607G>A (p.Ser536Asn)	MYO1E (S536N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479481	NM_004998.4(MYO1E):c.1606A>G (p.Ser536Gly)	MYO1E (S536G)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3163527	NM_004998.4(MYO1E):c.1466T>C (p.Ile489Thr)	MYO1E (I489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 834242	NM_004998.4(MYO1E):c.1292A>C (p.Glu431Ala)	MYO1E (E431A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2350660	NM_004998.4(MYO1E):c.1084C>T (p.Arg362Trp)	MYO1E (R362W)	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 2609094	NM_004998.4(MYO1E):c.1061C>T (p.Ala354Val)	MYO1E (A354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521507	NM_004998.4(MYO1E):c.1054C>T (p.Arg352Trp)	MYO1E (R352W)	Single nucleotide variant (missense variant)	not provided +1 more	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 3163688	NM_004998.4(MYO1E):c.938G>A (p.Gly313Glu)	MYO1E (G313E)	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 1568749	NM_004998.4(MYO1E):c.904G>A (p.Glu302Lys)	MYO1E (E302K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 971084	NM_004998.4(MYO1E):c.860A>G (p.Asn287Ser)	MYO1E (N287S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1443163	NM_004998.4(MYO1E):c.818C>T (p.Thr273Met)	MYO1E (T273M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

<< First< Prev

Page of 2