SMYD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	OR2G3, OR2G6 +276 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	ADSS2, AHCTF1 +273 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +272 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +264 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +183 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	LOC129932958, LOC129932959 +253 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	See cases	GPathogenic
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	ADSS2, AHCTF1 +118 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	ADSS2, AHCTF1 +237 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +230 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	LOC129932945, LOC129932946 +226 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +202 more	Copy number loss	See cases	GPathogenic
Select item 144508	GRCh38/hg38 1q44(chr1:244923388-246158204)x3	EFCAB2, KIF26B +24 more	Copy number gain	See cases	GUncertain significance
Select item 149286	GRCh38/hg38 1q44(chr1:244998996-246049903)x3	EFCAB2, KIF26B +12 more	Copy number gain	See cases	GUncertain significance
Select item 153987	GRCh38/hg38 1q44(chr1:245299178-246310558)x3	KIF26B, LOC110121251 +16 more	Copy number gain	See cases	GUncertain significance
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +168 more	Copy number gain	See cases	GPathogenic
Select item 145399	GRCh38/hg38 1q44(chr1:245542907-246492051)x3	KIF26B, LOC110121251 +18 more	Copy number gain	See cases	GLikely benign
Select item 155020	GRCh38/hg38 1q44(chr1:245542908-246544740)x3	KIF26B, LINC01743 +21 more	Copy number gain	See cases	GUncertain significance
Select item 147900	GRCh38/hg38 1q44(chr1:245584422-246492114)x3	KIF26B, LOC110121251 +17 more	Copy number gain	See cases	GBenign
Select item 2559721	NM_001167740.2(SMYD3):c.1165G>A (p.Ala389Thr)	SMYD3 (A200T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148609	GRCh38/hg38 1q44(chr1:245805927-246647918)x3	CNST, LINC01743 +25 more	Copy number gain	See cases	GUncertain significance
Select item 599314	NM_001167740.2(SMYD3):c.814-5812_814-3813del	LOC126806082, SMYD3	Deletion (intron variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 778257	NM_001167740.2(SMYD3):c.813+8G>A	SMYD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3166806	NM_001167740.2(SMYD3):c.809A>G (p.Asp270Gly)	SMYD3 (D211G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251508	NM_001167740.2(SMYD3):c.791T>G (p.Phe264Cys)	SMYD3 (F205C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472107	NM_001167740.2(SMYD3):c.749G>A (p.Arg250Gln)	SMYD3 (R61Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518032	NM_001167740.2(SMYD3):c.746G>A (p.Arg249His)	SMYD3 (R60H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293271	NM_001167740.2(SMYD3):c.715T>C (p.Tyr239His)	SMYD3 (Y50H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495483	NM_001167740.2(SMYD3):c.709A>T (p.Ile237Phe)	SMYD3 (I45F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343778	NM_001167740.2(SMYD3):c.688G>A (p.Glu230Lys)	SMYD3 (E41K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488879	NM_001167740.2(SMYD3):c.680G>A (p.Arg227Gln)	SMYD3 (R38Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612073	NM_001167740.2(SMYD3):c.671G>A (p.Arg224Gln)	SMYD3 (R35Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327749	NM_001167740.2(SMYD3):c.650A>G (p.Asn217Ser)	SMYD3 (N217S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386611	NM_001167740.2(SMYD3):c.572A>G (p.Gln191Arg)	SMYD3 (Q132R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151433	GRCh38/hg38 1q44(chr1:245952736-246624559)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GUncertain significance
Select item 153842	GRCh38/hg38 1q44(chr1:245963305-246590116)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154428	GRCh38/hg38 1q44(chr1:245979870-246615151)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GLikely benign
Select item 549577	NC_000001.11:g.246005506_246528998dup	LINC01743, LOC110121251 +15 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 154858	GRCh38/hg38 1q44(chr1:246031233-246443488)x3	LOC110121251, LOC120947224 +12 more	Copy number gain	See cases	GLikely benign
Select item 57850	GRCh38/hg38 1q44(chr1:246031245-247245758)x3	AHCTF1, CNST +59 more	Copy number gain	See cases	GUncertain significance
Select item 153110	GRCh38/hg38 1q44(chr1:246097511-246265839)x1	LOC122152356, LOC126806083 +7 more	Copy number loss	See cases	GUncertain significance
Select item 153694	GRCh38/hg38 1q44(chr1:246147446-246352642)x1	LOC110121251, LOC128598893 +7 more	Copy number loss	See cases	GLikely benign
Select item 147450	GRCh38/hg38 1q44(chr1:246158145-246338390)x1	LOC110121251, LOC128598894 +6 more	Copy number loss	See cases	GUncertain significance
Select item 155240	GRCh38/hg38 1q44(chr1:246184097-246413863)x1	LOC110121251, LOC129388803 +3 more	Copy number loss	See cases	GLikely benign
Select item 151310	GRCh38/hg38 1q44(chr1:246202303-246759911)x3	CNST, LINC01743 +21 more	Copy number gain	See cases	GLikely benign
Select item 3166804	NM_001167740.2(SMYD3):c.463A>G (p.Met155Val)	SMYD3 (M155V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534985	NM_001167740.2(SMYD3):c.442G>A (p.Val148Ile)	SMYD3 (V148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166803	NM_001167740.2(SMYD3):c.416A>C (p.Asp139Ala)	SMYD3 (D80A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300409	NM_001167740.2(SMYD3):c.395A>G (p.Asn132Ser)	SMYD3 (N73S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249725	NM_001167740.2(SMYD3):c.382G>T (p.Asp128Tyr)	SMYD3 (D128Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166802	NM_001167740.2(SMYD3):c.308G>A (p.Arg103Gln)	SMYD3 (R103Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284418	NM_001167740.2(SMYD3):c.298G>C (p.Asp100His)	SMYD3 (D41H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549241	NM_001167740.2(SMYD3):c.281A>C (p.Lys94Thr)	SMYD3 (K94T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166800	NM_001167740.2(SMYD3):c.275G>T (p.Ser92Ile)	SMYD3 (S92I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166799	NM_001167740.2(SMYD3):c.251A>G (p.Lys84Arg)	SMYD3 (K84R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152671	GRCh38/hg38 1q44(chr1:246338331-246415872)x1	LOC129388803, SMYD3	Copy number loss	See cases	GBenign
Select item 775698	NM_001167740.2(SMYD3):c.201C>T (p.Val67=)	SMYD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3166798	NM_001167740.2(SMYD3):c.197G>A (p.Arg66His)	SMYD3 (R66H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166797	NM_001167740.2(SMYD3):c.196C>T (p.Arg66Cys)	SMYD3 (R66C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145943	GRCh38/hg38 1q44(chr1:246386899-246415872)x1	SMYD3	Copy number loss	See cases	GLikely benign
Select item 2402549	NM_001167740.2(SMYD3):c.59C>T (p.Ala20Val)	SMYD3 (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166805	NM_001167740.2(SMYD3):c.56G>A (p.Arg19His)	SMYD3 (R19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063499	GRCh37/hg19 1q44(chr1:246179295-246704479)x1	SMYD3, TFB2M	Copy number loss	not specified	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062700	GRCh37/hg19 1q44(chr1:244579324-246515944)x1	ADSS2, CATSPERE +6 more	Copy number loss	not specified	GPathogenic
Select item 2685845	GRCh37/hg19 1q44(chr1:245399987-245977251)x3	KIF26B, SMYD3	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 1810325	GRCh37/hg19 1q44(chr1:246367970-246639585)x1	SMYD3	Copy number loss	not provided	Gnot provided
Select item 1809602	Single allele	ADSS2, C1orf100 +8 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808995	GRCh37/hg19 1q44(chr1:246174091-246702637)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 1808697	GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3	ADSS2, AHCTF1 +16 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1808579	GRCh37/hg19 1q44(chr1:246037516-246465146)x4	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 1808320	GRCh37/hg19 1q44(chr1:246606995-246890533)x3	CNST, SCCPDH +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic

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