"PreventionGenetics, part of Exact Sciences"[submitter] AND "ELMOD3"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2204415	NM_001135022.2(ELMOD3):c.112G>A (p.Ala38Thr)	ELMOD3 (A38T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1582334	NM_001135022.2(ELMOD3):c.254T>G (p.Ile85Ser)	ELMOD3 (I85S)	Single nucleotide variant (missense variant +1 more)	ELMOD3-related disorder +1 more	GLikely benign
Select item 508580	NM_001135022.2(ELMOD3):c.313A>G (p.Ser105Gly)	ELMOD3 (S105G)	Single nucleotide variant (missense variant +1 more)	ELMOD3-related disorder +2 more	GBenign
Select item 2637359	NM_001135022.2(ELMOD3):c.333C>G (p.Phe111Leu)	ELMOD3 (F111L)	Single nucleotide variant (missense variant +1 more)	ELMOD3-related disorder	GUncertain significance
Select item 1268898	NM_001135022.2(ELMOD3):c.397G>A (p.Ala133Thr)	ELMOD3 (A133T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2858944	NM_001135022.2(ELMOD3):c.517C>G (p.Arg173Gly)	ELMOD3 (R173G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 500138	NM_001135022.2(ELMOD3):c.706G>A (p.Glu236Lys)	ELMOD3 (E236K)	Single nucleotide variant (missense variant +1 more)	ELMOD3-related disorder +2 more	GLikely benign
Select item 508569	NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr)	ELMOD3 (A289T)	Single nucleotide variant (missense variant +1 more)	ELMOD3-related disorder +2 more	GBenign/Likely benign
Select item 2636678	NM_001135022.2(ELMOD3):c.1060C>T (p.Pro354Ser)	ELMOD3 (P354S)	Single nucleotide variant (missense variant +2 more)	ELMOD3-related disorder	GUncertain significance
Select item 1318149	NM_001135022.2(ELMOD3):c.1082A>T (p.Asp361Val)	ELMOD3 (D361V)	Single nucleotide variant (missense variant +1 more)	ELMOD3-related disorder +1 more	GLikely benign