Related gene-specific medical variations for Gene (Select 112479) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140584	NM_005622.4(ACSM3):c.956C>T (p.Pro319Leu)	ACSM3, ERI2 (P319L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140581	NM_005622.4(ACSM3):c.884G>A (p.Gly295Glu)	ACSM3, ERI2 (G295E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140570	NM_005622.4(ACSM3):c.857G>T (p.Ser286Ile)	ACSM3, ERI2 (S286I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140568	NM_005622.4(ACSM3):c.833C>T (p.Thr278Met)	ACSM3, ERI2 (T278M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140562	NM_005622.4(ACSM3):c.803C>G (p.Pro268Arg)	ACSM3, ERI2 (P268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140557	NM_005622.4(ACSM3):c.779G>C (p.Gly260Ala)	ACSM3, ERI2 (G260A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140530	NM_005622.4(ACSM3):c.1742A>C (p.Lys581Thr)	ACSM3, ERI2 (K581T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3140508	NM_005622.4(ACSM3):c.1370A>G (p.Tyr457Cys)	ACSM3, ERI2 (Y457C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026207	NM_005622.4(ACSM3):c.834G>A (p.Thr278=)	ACSM3, ERI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622477	NM_005622.4(ACSM3):c.1667C>A (p.Pro556His)	ACSM3, ERI2 (P556H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2552875	NM_005622.4(ACSM3):c.1708A>G (p.Ser570Gly)	ACSM3, ERI2 (S570G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550952	NM_005622.4(ACSM3):c.1324G>A (p.Val442Ile)	ACSM3, ERI2 (V442I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2537351	NM_005622.4(ACSM3):c.1109T>C (p.Leu370Pro)	ACSM3, ERI2 (L370P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532200	NM_005622.4(ACSM3):c.1478T>C (p.Val493Ala)	ACSM3, ERI2 (V493A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517691	NM_005622.4(ACSM3):c.1202C>T (p.Pro401Leu)	ACSM3, ERI2 (P401L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480887	NM_005622.4(ACSM3):c.699C>G (p.Phe233Leu)	ACSM3, ERI2 (F233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465480	NM_005622.4(ACSM3):c.1466G>T (p.Gly489Val)	ACSM3, ERI2 (G489V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462129	NM_005622.4(ACSM3):c.646A>C (p.Ser216Arg)	ACSM3, ERI2 (L303R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379701	NM_005622.4(ACSM3):c.872C>T (p.Pro291Leu)	ACSM3, ERI2 (P291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369873	NM_005622.4(ACSM3):c.725C>T (p.Pro242Leu)	ACSM3, ERI2 (P242L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348798	NM_005622.4(ACSM3):c.1162T>G (p.Phe388Val)	ACSM3, ERI2 (F388V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326957	NM_005622.4(ACSM3):c.1330A>C (p.Asn444His)	ACSM3, ERI2 (N444H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324723	NM_005622.4(ACSM3):c.1154G>C (p.Cys385Ser)	ACSM3, ERI2 (C385S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322831	NM_005622.4(ACSM3):c.1298G>A (p.Arg433Gln)	ACSM3, ERI2 (R433Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321772	NM_005622.4(ACSM3):c.1573G>A (p.Val525Ile)	ACSM3, ERI2 (V525I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2319655	NM_005622.4(ACSM3):c.871C>T (p.Pro291Ser)	ACSM3, ERI2 (P291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301958	NM_005622.4(ACSM3):c.826T>A (p.Ser276Thr)	ACSM3, ERI2 (S276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277572	NM_001142725.2(ERI2):c.5C>T (p.Ala2Val)	ERI2, REXO5 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247648	NM_005622.4(ACSM3):c.988T>C (p.Tyr330His)	ACSM3, ERI2 (Y330H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226967	NM_005622.4(ACSM3):c.783G>C (p.Arg261Ser)	ACSM3, ERI2 (R261S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 30