ClinVar for Gene (Select 51257) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293289	NM_001005415.2(MARCHF2):c.392C>T (p.Pro131Leu)	MARCHF2 (P131L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123464	NM_001005415.2(MARCHF2):c.671C>T (p.Pro224Leu)	MARCHF2 (P154L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123463	NM_001005415.2(MARCHF2):c.656G>A (p.Arg219Gln)	MARCHF2 (R219Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123462	NM_001005415.2(MARCHF2):c.629C>T (p.Thr210Ile)	MARCHF2 (T210I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123461	NM_001005415.2(MARCHF2):c.5C>T (p.Thr2Met)	MARCHF2 (T2M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123460	NM_001005415.2(MARCHF2):c.566A>G (p.Tyr189Cys)	MARCHF2 (Y189C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123459	NM_001005415.2(MARCHF2):c.539C>T (p.Ala180Val)	MARCHF2 (A180V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123458	NM_001005415.2(MARCHF2):c.482G>A (p.Arg161His)	MARCHF2 (R161H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123457	NM_001005415.2(MARCHF2):c.394C>G (p.Arg132Gly)	MARCHF2 (R132G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123455	NM_001005415.2(MARCHF2):c.373T>C (p.Trp125Arg)	MARCHF2 (W125R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123454	NM_001005415.2(MARCHF2):c.332C>T (p.Thr111Met)	MARCHF2 (T111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123453	NM_001005415.2(MARCHF2):c.212C>T (p.Ala71Val)	MARCHF2 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123452	NM_001005415.2(MARCHF2):c.202C>T (p.His68Tyr)	MARCHF2 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649200	NM_001005415.2(MARCHF2):c.672C>T (p.Pro224=)	MARCHF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649199	NM_001005415.2(MARCHF2):c.654C>T (p.Ile218=)	MARCHF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2606823	NM_001005415.2(MARCHF2):c.485G>A (p.Gly162Glu)	MARCHF2 (G162E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600090	NM_001005415.2(MARCHF2):c.61G>A (p.Ala21Thr)	MARCHF2 (A21T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570529	NM_001005415.2(MARCHF2):c.338T>C (p.Phe113Ser)	MARCHF2 (F113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554726	NM_001005415.2(MARCHF2):c.578C>T (p.Thr193Met)	MARCHF2 (T193M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536474	NM_001005415.2(MARCHF2):c.625A>G (p.Lys209Glu)	MARCHF2 (K209E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523468	NM_001005415.2(MARCHF2):c.16T>C (p.Cys6Arg)	MARCHF2 (C6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520158	NM_001005415.2(MARCHF2):c.217G>A (p.Gly73Arg)	MARCHF2 (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519867	NM_001005415.2(MARCHF2):c.52G>A (p.Gly18Ser)	MARCHF2 (G18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30