ClinVar for Gene (Select 64754) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2612073	NM_001167740.2(SMYD3):c.671G>A (p.Arg224Gln)	SMYD3 (R35Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	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 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2559721	NM_001167740.2(SMYD3):c.1165G>A (p.Ala389Thr)	SMYD3 (A200T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549241	NM_001167740.2(SMYD3):c.281A>C (p.Lys94Thr)	SMYD3 (K94T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534985	NM_001167740.2(SMYD3):c.442G>A (p.Val148Ile)	SMYD3 (V148I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	CNST, GCSAML +58 more	Copy number loss	not provided	GPathogenic
Select item 2495483	NM_001167740.2(SMYD3):c.709A>T (p.Ile237Phe)	SMYD3 (I45F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488879	NM_001167740.2(SMYD3):c.680G>A (p.Arg227Gln)	SMYD3 (R38Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2402549	NM_001167740.2(SMYD3):c.59C>T (p.Ala20Val)	SMYD3 (A20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2343778	NM_001167740.2(SMYD3):c.688G>A (p.Glu230Lys)	SMYD3 (E41K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327749	NM_001167740.2(SMYD3):c.650A>G (p.Asn217Ser)	SMYD3 (N217S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300409	NM_001167740.2(SMYD3):c.395A>G (p.Asn132Ser)	SMYD3 (N73S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2284418	NM_001167740.2(SMYD3):c.298G>C (p.Asp100His)	SMYD3 (D41H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2249725	NM_001167740.2(SMYD3):c.382G>T (p.Asp128Tyr)	SMYD3 (D128Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1684547	GRCh37/hg19 1q44(chr1:245476101-246429005)x3	KIF26B, SMYD3	Copy number gain	See cases	GUncertain significance
Select item 1527714	GRCh37/hg19 1q44(chr1:246109449-246595110)	SMYD3	Copy number gain	not specified	GUncertain significance
Select item 1340896	GRCh37/hg19 1q44(chr1:245964948-246158491)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 1340148	GRCh37/hg19 1q44(chr1:245904749-246056135)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 1339908	GRCh37/hg19 1q44(chr1:246530458-246608001)x1	SMYD3	Copy number loss	not provided	Gnot provided
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 980430	GRCh37/hg19 1q44(chr1:245748471-246117191)x3	SMYD3, KIF26B	Copy number gain	not provided	GUncertain significance
Select item 980429	GRCh37/hg19 1q44(chr1:246067928-246502233)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 980427	GRCh37/hg19 1q44(chr1:245500158-246384914)x1	SMYD3, KIF26B	Copy number loss	not provided	GUncertain significance
Select item 980426	GRCh37/hg19 1q44(chr1:246174090-246701687)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814202	GRCh37/hg19 1q44(chr1:246530458-246608001)x1	SMYD3	Copy number loss	not provided	GUncertain significance
Select item 814201	GRCh37/hg19 1q44(chr1:246382096-247018065)x3	SMYD3, TFB2M +3 more	Copy number gain	not provided	GLikely benign
Select item 814200	GRCh37/hg19 1q44(chr1:246193103-246688599)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 814199	GRCh37/hg19 1q44(chr1:246174090-246674868)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 814198	GRCh37/hg19 1q44(chr1:246060750-246382096)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 814196	GRCh37/hg19 1q44(chr1:244546830-246826108)x3	CATSPERE, CNST +9 more	Copy number gain	not provided	GUncertain significance
Select item 778257	NM_001167740.2(SMYD3):c.813+8G>A	SMYD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775698	NM_001167740.2(SMYD3):c.201C>T (p.Val67=)	SMYD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 688793	GRCh37/hg19 1q44(chr1:246443511-246520363)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 688664	GRCh37/hg19 1q44(chr1:246163067-246583513)x1	SMYD3	Copy number loss	not provided	GUncertain significance
Select item 687714	GRCh37/hg19 1q44(chr1:246120514-246787861)x3	CNST, SMYD3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 687323	GRCh37/hg19 1q44(chr1:246324759-246515943)x1	SMYD3	Copy number loss	not provided	GUncertain significance
Select item 687073	GRCh37/hg19 1q44(chr1:246163160-246700047)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 686345	GRCh37/hg19 1q44(chr1:246614239-247022715)x3	AHCTF1, CNST +3 more	Copy number gain	not provided	GUncertain significance
Select item 685512	GRCh37/hg19 1q44(chr1:246124606-246942029)x1	CNST, SCCPDH +2 more	Copy number loss	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 685053	GRCh37/hg19 1q44(chr1:245820559-245991789)x3	KIF26B, SMYD3	Copy number gain	not provided	GUncertain significance
Select item 635894	Single allele	KIF26B, SMYD3	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625615	GRCh37/hg19 1q43-44(chr1:242150334-246518362)	ADSS2, AKT3 +13 more	Copy number loss	not provided	GPathogenic
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
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 565255	GRCh37/hg19 1q44(chr1:246179294-246674868)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 565254	GRCh37/hg19 1q44(chr1:246060750-246810088)x3	TFB2M, SMYD3 +1 more	Copy number gain	not provided	GLikely benign
Select item 565253	GRCh37/hg19 1q44(chr1:245278737-245971950)x1	KIF26B, EFCAB2 +1 more	Copy number loss	not provided	GPathogenic
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 561259	46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter)	COX20, SMYD3 +6 more	Complex	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 549577	NC_000001.11:g.246005506_246528998dup	LINC01743, LOC110121251 +15 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 446337	GRCh37/hg19 1q44(chr1:245950642-246823857)x1	CNST, SMYD3 +1 more	Copy number loss	See cases	GUncertain significance
Select item 443769	GRCh37/hg19 1q44(chr1:246060750-246802095)x3	CNST, SMYD3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443768	GRCh37/hg19 1q44(chr1:244879310-246176769)x3	COX20, EFCAB2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443669	GRCh37/hg19 1q44(chr1:246176964-246744498)x4	CNST, SMYD3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443567	GRCh37/hg19 1q44(chr1:246594705-247245220)x3	AHCTF1, CNST +5 more	Copy number gain	See cases	GUncertain significance
Select item 443437	GRCh37/hg19 1q44(chr1:245684808-246705834)x4	KIF26B, SMYD3 +1 more	Copy number gain	See cases	GLikely benign
Select item 443327	GRCh37/hg19 1q44(chr1:246109449-246704479)x1	SMYD3, TFB2M	Copy number loss	See cases	GUncertain significance
Select item 443217	GRCh37/hg19 1q44(chr1:245462480-246465283)x3	KIF26B, SMYD3	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442983	GRCh37/hg19 1q44(chr1:244281222-247789907)x3	ADSS2, AHCTF1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 442840	GRCh37/hg19 1q44(chr1:246352675-246624043)x1	SMYD3	Copy number loss	See cases	GLikely benign
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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