ClinVar for Gene (Select 56950) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3166795	NM_020197.3(SMYD2):c.407C>T (p.Ser136Leu)	SMYD2 (S136L)	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 3166793	NM_020197.3(SMYD2):c.295A>C (p.Asn99His)	SMYD2 (N99H)	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 3166791	NM_020197.3(SMYD2):c.1128G>C (p.Leu376Phe)	SMYD2 (L376F)	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 2520785	NM_020197.3(SMYD2):c.1273G>A (p.Glu425Lys)	SMYD2 (E425K)	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 2467903	NM_020197.3(SMYD2):c.695C>G (p.Pro232Arg)	SMYD2 (P232R)	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 2351130	NM_020197.3(SMYD2):c.293A>G (p.Glu98Gly)	SMYD2 (E98G)	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 2314429	NM_020197.3(SMYD2):c.964G>A (p.Glu322Lys)	SMYD2 (E322K)	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 2271927	NM_020197.3(SMYD2):c.496T>A (p.Phe166Ile)	SMYD2 (F166I)	Single nucleotide variant (missense variant)	not specified	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 2253423	NM_020197.3(SMYD2):c.619C>G (p.His207Asp)	SMYD2 (H207D)	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 2235804	NM_020197.3(SMYD2):c.568G>A (p.Glu190Lys)	SMYD2 (E190K)	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 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1679723	Single allele	LOC110121306, LOC120908906 +14 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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	CAPN9, CATSPERE +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +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
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 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 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
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 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 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 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 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

ClinVar

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Links from Gene

Items: 41