MARCHF4[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
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 3293293	NM_020814.3(MARCHF4):c.982G>A (p.Ala328Thr)	MARCHF4 (A328T)	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 153437	GRCh38/hg38 2q35(chr2:216266846-216782346)x3	IGFBP-AS1, IGFBP2 +16 more	Copy number gain	See cases	Gconflicting data from submitters
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 3293296	NM_020814.3(MARCHF4):c.476G>A (p.Arg159Lys)	MARCHF4 (R159K)	Single nucleotide variant (missense variant)	not specified	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 3293292	NM_020814.3(MARCHF4):c.449T>C (p.Leu150Pro)	MARCHF4 (L150P)	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 3293294	NM_020814.3(MARCHF4):c.334C>T (p.Pro112Ser)	MARCHF4 (P112S)	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 1693165	NC_000002.12:g.216370024_216479573inv	LOC112806077, LOC129935569 +2 more	Inversion	Schimke immuno-osseous dysplasia	GLikely pathogenic
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
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1340964	GRCh37/hg19 2q35(chr2:216802244-217200292)x3	MARCHF4, MREG +3 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221795	GRCh37/hg19 2q35(chr2:216629374-217251859)x3	XRCC5, PECR +3 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 54