ClinVar for Gene (Select 92979) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293308	NM_138396.6(MARCHF9):c.196C>T (p.Arg66Trp)	LOC130008151, MARCHF9 (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293307	NM_138396.6(MARCHF9):c.862C>G (p.Arg288Gly)	MARCHF9 (R288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3123562	NM_138396.6(MARCHF9):c.97G>A (p.Gly33Ser)	LOC130008150, MARCHF9 (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123561	NM_138396.6(MARCHF9):c.935G>A (p.Arg312His)	MARCHF9 (R312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123560	NM_138396.6(MARCHF9):c.917G>A (p.Arg306Gln)	MARCHF9 (R306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123559	NM_138396.6(MARCHF9):c.908A>G (p.Gln303Arg)	MARCHF9 (Q303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123558	NM_138396.6(MARCHF9):c.893G>A (p.Arg298His)	MARCHF9 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123557	NM_138396.6(MARCHF9):c.88C>T (p.Pro30Ser)	LOC130008150, MARCHF9 (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123556	NM_138396.6(MARCHF9):c.886A>G (p.Thr296Ala)	MARCHF9 (T296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123555	NM_138396.6(MARCHF9):c.821C>G (p.Ala274Gly)	MARCHF9 (A274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123554	NM_138396.6(MARCHF9):c.79G>A (p.Glu27Lys)	LOC130008150, MARCHF9 (E27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123553	NM_138396.6(MARCHF9):c.73C>G (p.Arg25Gly)	LOC130008150, MARCHF9 (R25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123552	NM_138396.6(MARCHF9):c.728C>T (p.Ser243Phe)	MARCHF9 (S243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123551	NM_138396.6(MARCHF9):c.652C>G (p.Leu218Val)	MARCHF9 (L218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123550	NM_138396.6(MARCHF9):c.326A>G (p.Gln109Arg)	MARCHF9 (Q109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123549	NM_138396.6(MARCHF9):c.320C>T (p.Thr107Ile)	MARCHF9 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123548	NM_138396.6(MARCHF9):c.289C>G (p.Leu97Val)	MARCHF9 (L97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123547	NM_138396.6(MARCHF9):c.280G>C (p.Ala94Pro)	MARCHF9 (A94P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123546	NM_138396.6(MARCHF9):c.268G>A (p.Gly90Ser)	MARCHF9 (G90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123545	NM_138396.6(MARCHF9):c.134G>A (p.Gly45Asp)	MARCHF9 (G45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616286	NM_138396.6(MARCHF9):c.122C>T (p.Ala41Val)	MARCHF9 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614141	NM_138396.6(MARCHF9):c.29T>C (p.Leu10Pro)	LOC130008150, MARCHF9 (L10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596020	NM_138396.6(MARCHF9):c.106G>A (p.Gly36Ser)	LOC130008150, MARCHF9 (G36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566354	NM_138396.6(MARCHF9):c.934C>G (p.Arg312Gly)	MARCHF9 (R312G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560220	NM_138396.6(MARCHF9):c.862C>T (p.Arg288Trp)	MARCHF9 (R288W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2491729	NM_138396.6(MARCHF9):c.404C>T (p.Thr135Met)	MARCHF9 (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2422306	NC_000012.11:g.(?_58144419)_(58160824_?)dup	CDK4, CYP27B1 +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1410313	NC_000012.11:g.(?_57881874)_(58190366_?)dup	AGAP2, ARHGEF25 +17 more	Duplication	not provided	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40