MARCHF4[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123482	NM_020814.3(MARCHF4):c.1229T>C (p.Val410Ala)	MARCHF4 (V410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123481	NM_020814.3(MARCHF4):c.1228G>C (p.Val410Leu)	MARCHF4 (V410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123480	NM_020814.3(MARCHF4):c.1178A>G (p.Gln393Arg)	MARCHF4 (Q393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123479	NM_020814.3(MARCHF4):c.1054G>A (p.Ala352Thr)	MARCHF4 (A352T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123478	NM_020814.3(MARCHF4):c.1015T>C (p.Ser339Pro)	MARCHF4 (S339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123496	NM_020814.3(MARCHF4):c.971A>G (p.Glu324Gly)	MARCHF4 (E324G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123495	NM_020814.3(MARCHF4):c.899G>A (p.Arg300His)	MARCHF4 (R300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769585	NM_020814.3(MARCHF4):c.891G>A (p.Ser297=)	MARCHF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3123494	NM_020814.3(MARCHF4):c.862A>C (p.Ile288Leu)	MARCHF4 (I288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123493	NM_020814.3(MARCHF4):c.832G>A (p.Gly278Arg)	MARCHF4 (G278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456979	NM_020814.3(MARCHF4):c.794G>T (p.Arg265Ile)	MARCHF4 (R265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515027	NM_020814.3(MARCHF4):c.748G>A (p.Ala250Thr)	MARCHF4 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 427847	NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu)	MARCHF4 (K211E)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GUncertain significance
Select item 3123488	NM_020814.3(MARCHF4):c.463G>A (p.Asp155Asn)	MARCHF4 (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478442	NM_020814.3(MARCHF4):c.439C>A (p.Arg147Ser)	MARCHF4 (R147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483777	NM_020814.3(MARCHF4):c.395G>T (p.Ser132Ile)	MARCHF4 (S132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123487	NM_020814.3(MARCHF4):c.287T>G (p.Val96Gly)	MARCHF4 (V96G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123486	NM_020814.3(MARCHF4):c.257G>T (p.Gly86Val)	MARCHF4 (G86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123485	NM_020814.3(MARCHF4):c.228C>A (p.Asn76Lys)	MARCHF4 (N76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123483	NM_020814.3(MARCHF4):c.131T>G (p.Met44Arg)	MARCHF4 (M44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123491	NM_020814.3(MARCHF4):c.80C>T (p.Pro27Leu)	MARCHF4 (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123490	NM_020814.3(MARCHF4):c.56G>C (p.Trp19Ser)	MARCHF4 (W19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123489	NM_020814.3(MARCHF4):c.52G>T (p.Gly18Cys)	MARCHF4 (G18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 427848	NM_020814.3(MARCHF4):c.39G>C (p.Trp13Cys)	MARCHF4 (W13C)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely benign
Select item 3123484	NM_020814.3(MARCHF4):c.20G>A (p.Gly7Glu)	MARCHF4 (G7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611448	NM_020814.3(MARCHF4):c.10C>T (p.Pro4Ser)	MARCHF4 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26