7595[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 188

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 1318916	NM_005379.4(MYO1A):c.*19A>G	MYO1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 227659	NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)	MYO1A (Q1043R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2307159	NM_005379.4(MYO1A):c.3110G>C (p.Cys1037Ser)	MYO1A (C1037S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 309895	NM_005379.4(MYO1A):c.3095A>C (p.Lys1032Thr)	MYO1A (K1032T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 178453	NM_005379.4(MYO1A):c.3091A>G (p.Lys1031Glu)	MYO1A (K1031E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163027	NM_005379.4(MYO1A):c.3085C>T (p.Arg1029Cys)	MYO1A (R1029C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213635	NM_005379.4(MYO1A):c.3076A>G (p.Ser1026Gly)	MYO1A (S1026G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383466	NM_005379.4(MYO1A):c.3072C>A (p.Asp1024Glu)	MYO1A (D1024E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223451	NM_005379.4(MYO1A):c.3030C>G (p.Asn1010Lys)	MYO1A (N1010K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178621	NM_005379.4(MYO1A):c.3026A>C (p.Glu1009Ala)	MYO1A (E1009A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1257585	NM_005379.4(MYO1A):c.3006-63T>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317624	NM_005379.4(MYO1A):c.3005+94C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3163016	NM_005379.4(MYO1A):c.2995G>A (p.Val999Met)	MYO1A (V999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 45311	NM_005379.4(MYO1A):c.2987C>T (p.Thr996Ile)	MYO1A (T996I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 309896	NM_005379.4(MYO1A):c.2985T>C (p.Leu995=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390544	NM_005379.4(MYO1A):c.2972C>T (p.Thr991Met)	MYO1A (T991M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057581	NM_005379.4(MYO1A):c.2954G>A (p.Arg985Gln)	MYO1A (R985Q)	Single nucleotide variant (missense variant)	MYO1A-related disorder	GLikely benign
Select item 178845	NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys)	MYO1A (E974K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 164578	NM_005379.4(MYO1A):c.2919C>T (p.Ser973=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2295484	NM_005379.4(MYO1A):c.2918G>A (p.Ser973Asn)	MYO1A (S973N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161632	NM_005379.4(MYO1A):c.2887G>A (p.Val963Met)	MYO1A (V963M)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3297771	NM_005379.4(MYO1A):c.2885C>T (p.Ser962Leu)	MYO1A (S962L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326653	NM_005379.4(MYO1A):c.2878-45G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289007	NM_005379.4(MYO1A):c.2877+22A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 164579	NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)	MYO1A (S958G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3163006	NM_005379.4(MYO1A):c.2840G>T (p.Ser947Ile)	MYO1A (S947I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297768	NM_005379.4(MYO1A):c.2830T>G (p.Ser944Ala)	MYO1A (S944A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163002	NM_005379.4(MYO1A):c.2821G>T (p.Ala941Ser)	MYO1A (A941S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164580	NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr)	MYO1A (I935T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3297774	NM_005379.4(MYO1A):c.2771C>T (p.Thr924Ile)	MYO1A (T924I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162993	NM_005379.4(MYO1A):c.2734C>T (p.Arg912Trp)	MYO1A (R912W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8151	NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro)	MYO1A (S910P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 48	GUncertain significance
Select item 676684	NM_005379.4(MYO1A):c.2724+28C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 164581	NM_005379.4(MYO1A):c.2724+7G>A	MYO1A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3297773	NM_005379.4(MYO1A):c.2723A>C (p.Lys908Thr)	MYO1A (K908T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178455	NM_005379.4(MYO1A):c.2708A>G (p.Asn903Ser)	MYO1A (N903S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297761	NM_005379.4(MYO1A):c.2695G>A (p.Val899Met)	MYO1A (V899M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227658	NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)	MYO1A (M895T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 452920	NM_005379.4(MYO1A):c.2662G>A (p.Gly888Arg)	MYO1A (G888R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297762	NM_005379.4(MYO1A):c.2621T>C (p.Ile874Thr)	MYO1A (I874T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316208	NM_005379.4(MYO1A):c.2592-55G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228542	NM_005379.4(MYO1A):c.2592-58G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227184	NM_005379.4(MYO1A):c.2591+146A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270231	NM_005379.4(MYO1A):c.2591+62G>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317916	NM_005379.4(MYO1A):c.2591+22C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 45310	NM_005379.4(MYO1A):c.2572A>G (p.Lys858Glu)	MYO1A (K858E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 682253	NM_005379.4(MYO1A):c.2530C>T (p.Leu844=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 439957	NM_005379.4(MYO1A):c.2513C>T (p.Pro838Leu)	MYO1A (P838L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178952	NM_005379.4(MYO1A):c.2499G>T (p.Arg833=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2374297	NM_005379.4(MYO1A):c.2497C>T (p.Arg833Trp)	MYO1A (R833W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175634	NM_005379.4(MYO1A):c.2485-45C>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 289301	NM_005379.4(MYO1A):c.2422G>A (p.Ala808Thr)	MYO1A (A808T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226793	NM_005379.4(MYO1A):c.2406C>T (p.Asp802=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 178620	NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)	MYO1A (S797F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3162975	NM_005379.4(MYO1A):c.2363T>A (p.Leu788Gln)	MYO1A (L788Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278954	NM_005379.4(MYO1A):c.2350-188G>A	LOC130008108, MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271685	NM_005379.4(MYO1A):c.2349+116A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 164583	NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu)	MYO1A (K781E)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 2462809	NM_005379.4(MYO1A):c.2335A>G (p.Ile779Val)	MYO1A (I779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178454	NM_005379.4(MYO1A):c.2316C>T (p.Ala772=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3162968	NM_005379.4(MYO1A):c.2309A>C (p.Glu770Ala)	MYO1A (E770A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 45309	NM_005379.4(MYO1A):c.2302C>T (p.Arg768Trp)	MYO1A (R768W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283581	NM_005379.4(MYO1A):c.2294A>G (p.Lys765Arg)	MYO1A (K765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594044	NM_005379.4(MYO1A):c.2291G>T (p.Arg764Leu)	MYO1A (R764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257837	NM_005379.4(MYO1A):c.2275-156G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181530	NM_005379.4(MYO1A):c.2274+121G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250385	NM_005379.4(MYO1A):c.2274+16AG[2]	MYO1A	Microsatellite (intron variant)	not provided	GBenign
Select item 3025573	NM_005379.4(MYO1A):c.2250C>A (p.Ile750=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 164585	NM_005379.4(MYO1A):c.2238C>T (p.Ser746=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 45308	NM_005379.4(MYO1A):c.2238C>G (p.Ser746=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 164586	NM_005379.4(MYO1A):c.2228T>C (p.Ile743Thr)	MYO1A (I743T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643106	NM_005379.4(MYO1A):c.2220T>G (p.Tyr740Ter)	MYO1A (Y740*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2291576	NM_005379.4(MYO1A):c.2214A>T (p.Lys738Asn)	MYO1A (K738N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227657	NM_005379.4(MYO1A):c.2162G>A (p.Arg721Gln)	MYO1A (R721Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615516	NM_005379.4(MYO1A):c.2141G>T (p.Arg714Leu)	MYO1A (R714L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227656	NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)	MYO1A (R714H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 668394	NM_005379.4(MYO1A):c.2130C>A (p.Gly710=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 164587	NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 683283	NM_005379.4(MYO1A):c.2055+82G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316207	NM_005379.4(MYO1A):c.2055+20A>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3048834	NM_005379.4(MYO1A):c.2055T>C (p.Thr685=)	MYO1A	Single nucleotide variant (synonymous variant)	MYO1A-related disorder	GLikely benign
Select item 164588	NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe)	MYO1A (I678F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 226411	NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp)	MYO1A (G674D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2292963	NM_005379.4(MYO1A):c.1996A>G (p.Met666Val)	MYO1A (M666V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487838	NM_005379.4(MYO1A):c.1994G>A (p.Ser665Asn)	MYO1A (S665N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8150	NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu)	MYO1A (G662E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 499788	NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln)	MYO1A (R654Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 164589	NM_005379.4(MYO1A):c.1928G>A (p.Arg643Gln)	MYO1A (R643Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162955	NM_005379.4(MYO1A):c.1916G>A (p.Arg639Gln)	MYO1A (R639Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 514407	NM_005379.4(MYO1A):c.1882C>T (p.Arg628Cys)	MYO1A (R628C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 164590	NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly)	MYO1A (R628G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3297769	NM_005379.4(MYO1A):c.1871G>C (p.Gly624Ala)	MYO1A (G624A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297763	NM_005379.4(MYO1A):c.1856G>A (p.Arg619Gln)	MYO1A (R619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569705	NM_005379.4(MYO1A):c.1792G>A (p.Gly598Ser)	MYO1A (G598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 515258	NM_005379.4(MYO1A):c.1775A>G (p.Asn592Ser)	MYO1A (N592S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 164591	NM_005379.4(MYO1A):c.1770G>A (p.Lys590=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1262484	NM_005379.4(MYO1A):c.1761-164G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3297758	NM_005379.4(MYO1A):c.1682C>T (p.Pro561Leu)	MYO1A (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2