SMYD2[gene] - ClinVar

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

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 1679723	Single allele	LOC110121306, LOC120908906 +14 more	Duplication	not provided	GUncertain significance
Select item 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	GUncertain significance
Select item 2262417	NM_020197.3(SMYD2):c.29A>T (p.Glu10Val)	LOC129932500, SMYD2 (E10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166794	NM_020197.3(SMYD2):c.32G>C (p.Arg11Pro)	LOC129932500, SMYD2 (R11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240190	NM_020197.3(SMYD2):c.116A>G (p.Tyr39Cys)	LOC129932500, SMYD2 (Y39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312413	NM_020197.3(SMYD2):c.142C>T (p.Arg48Trp)	SMYD2 (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552120	NM_020197.3(SMYD2):c.253A>G (p.Met85Val)	SMYD2 (M85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351130	NM_020197.3(SMYD2):c.293A>G (p.Glu98Gly)	SMYD2 (E98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166793	NM_020197.3(SMYD2):c.295A>C (p.Asn99His)	SMYD2 (N99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341897	NM_020197.3(SMYD2):c.305C>T (p.Pro102Leu)	SMYD2 (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166795	NM_020197.3(SMYD2):c.407C>T (p.Ser136Leu)	SMYD2 (S136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271927	NM_020197.3(SMYD2):c.496T>A (p.Phe166Ile)	SMYD2 (F166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321074	NM_020197.3(SMYD2):c.514C>T (p.Leu172Phe)	SMYD2 (L172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235804	NM_020197.3(SMYD2):c.568G>A (p.Glu190Lys)	SMYD2 (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517891	NM_020197.3(SMYD2):c.590C>T (p.Ala197Val)	SMYD2 (A197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253423	NM_020197.3(SMYD2):c.619C>G (p.His207Asp)	SMYD2 (H207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467903	NM_020197.3(SMYD2):c.695C>G (p.Pro232Arg)	SMYD2 (P232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206103	NM_020197.3(SMYD2):c.850G>A (p.Asp284Asn)	SMYD2 (D284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359275	NM_020197.3(SMYD2):c.875G>A (p.Arg292Gln)	SMYD2 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166796	NM_020197.3(SMYD2):c.926A>G (p.Lys309Arg)	SMYD2 (K309R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314429	NM_020197.3(SMYD2):c.964G>A (p.Glu322Lys)	SMYD2 (E322K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166791	NM_020197.3(SMYD2):c.1128G>C (p.Leu376Phe)	SMYD2 (L376F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166792	NM_020197.3(SMYD2):c.1265A>C (p.Tyr422Ser)	SMYD2 (Y422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520785	NM_020197.3(SMYD2):c.1273G>A (p.Glu425Lys)	SMYD2 (E425K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 685129	GRCh37/hg19 1q32.3-41(chr1:213650050-215256600)x3	KCNK2, LINC00538 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43