ELK3[gene] - ClinVar

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Items: 36

	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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2314909	NM_005230.4(ELK3):c.11C>T (p.Ala4Val)	ELK3 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409332	NM_005230.4(ELK3):c.270C>G (p.Ile90Met)	ELK3 (I90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088291	NM_005230.4(ELK3):c.305G>A (p.Arg102Gln)	ELK3 (R102Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275148	NM_005230.4(ELK3):c.328A>G (p.Ser110Gly)	ELK3 (S110G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229013	NM_005230.4(ELK3):c.331G>A (p.Asp111Asn)	ELK3 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088292	NM_005230.4(ELK3):c.347C>T (p.Pro116Leu)	ELK3 (P116L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088294	NM_005230.4(ELK3):c.520C>T (p.Pro174Ser)	ELK3 (P174S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088293	NM_005230.4(ELK3):c.520C>G (p.Pro174Ala)	ELK3 (P174A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216126	NM_005230.4(ELK3):c.602T>C (p.Leu201Pro)	ELK3 (L201P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088295	NM_005230.4(ELK3):c.608C>T (p.Ser203Phe)	ELK3 (S203F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 773263	NM_005230.4(ELK3):c.611C>T (p.Thr204Met)	ELK3 (T204M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2624027	NM_005230.4(ELK3):c.652G>C (p.Val218Leu)	ELK3 (V67L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275147	NM_005230.4(ELK3):c.664A>G (p.Ile222Val)	ELK3 (I71V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301282	NM_005230.4(ELK3):c.667T>G (p.Ser223Ala)	ELK3 (S72A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709509	NM_005230.4(ELK3):c.678G>A (p.Met226Ile)	ELK3 (M226I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3275150	NM_005230.4(ELK3):c.772A>G (p.Ser258Gly)	ELK3 (S106G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214064	NM_005230.4(ELK3):c.809C>T (p.Ser270Phe)	ELK3 (S197F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778645	NM_005230.4(ELK3):c.834G>A (p.Ser278=)	ELK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088296	NM_005230.4(ELK3):c.908C>T (p.Pro303Leu)	ELK3 (P230L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265293	NM_005230.4(ELK3):c.922G>A (p.Gly308Ser)	ELK3 (G157S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088297	NM_005230.4(ELK3):c.926C>T (p.Thr309Ile)	ELK3 (T309I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470196	NM_005230.4(ELK3):c.994A>G (p.Thr332Ala)	ELK3 (T180A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779607	NM_005230.4(ELK3):c.1029G>A (p.Pro343=)	ELK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088288	NM_005230.4(ELK3):c.1093G>A (p.Ala365Thr)	ELK3 (A292T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088289	NM_005230.4(ELK3):c.1115C>T (p.Thr372Met)	ELK3 (T221M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 728966	NM_005230.4(ELK3):c.1125+7G>A	ELK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2461178	NM_005230.4(ELK3):c.1143T>G (p.Asn381Lys)	ELK3 (N229K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402015	NM_005230.4(ELK3):c.1149C>A (p.His383Gln)	ELK3 (H231Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088290	NM_005230.4(ELK3):c.1190C>T (p.Pro397Leu)	ELK3 (P245L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807664	GRCh37/hg19 12q23.1(chr12:96279628-96608563)x3	AMDHD1, CCDC38 +3 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221492	GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3	NEDD1, RMST +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 36