MFSD5[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 2240031	NM_001170790.2(MFSD5):c.247G>A (p.Ala83Thr)	MFSD5 (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125806	NM_032889.5(MFSD5):c.-12C>T	MFSD5 (R104W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354016	NM_032889.5(MFSD5):c.-2C>T	MFSD5 (T107I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299381	NM_032889.5(MFSD5):c.195A>C (p.Lys65Asn)	MFSD5 (K172N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357337	NM_032889.5(MFSD5):c.380A>G (p.Tyr127Cys)	MFSD5 (Y127C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323369	NM_032889.5(MFSD5):c.406C>T (p.Leu136Phe)	MFSD5 (L136F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611171	NM_032889.5(MFSD5):c.479A>G (p.His160Arg)	MFSD5 (H267R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613833	NM_032889.5(MFSD5):c.518G>C (p.Arg173Pro)	MFSD5 (R173P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532557	NM_032889.5(MFSD5):c.605C>T (p.Ala202Val)	MFSD5 (A309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125807	NM_032889.5(MFSD5):c.635C>T (p.Ala212Val)	MFSD5 (A212V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603346	NM_032889.5(MFSD5):c.655C>G (p.Leu219Val)	MFSD5 (L219V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360547	NM_032889.5(MFSD5):c.659G>A (p.Arg220Gln)	MFSD5 (R220Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294558	NM_032889.5(MFSD5):c.670G>A (p.Glu224Lys)	MFSD5 (E224K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387241	NM_032889.5(MFSD5):c.683G>A (p.Arg228Gln)	MFSD5 (R228Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294556	NM_032889.5(MFSD5):c.689G>A (p.Arg230His)	MFSD5 (R230H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603345	NM_032889.5(MFSD5):c.718C>G (p.Leu240Val)	MFSD5 (L347V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405765	NM_032889.5(MFSD5):c.721C>T (p.Arg241Cys)	MFSD5 (R241C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125801	NM_032889.5(MFSD5):c.742C>T (p.Arg248Cys)	MFSD5 (R355C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333870	NM_032889.5(MFSD5):c.743G>A (p.Arg248His)	MFSD5 (R355H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125802	NM_032889.5(MFSD5):c.792C>G (p.Phe264Leu)	MFSD5 (F264L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552848	NM_032889.5(MFSD5):c.826C>G (p.Pro276Ala)	MFSD5 (P276A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467843	NM_032889.5(MFSD5):c.832G>A (p.Gly278Arg)	MFSD5 (G278R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396837	NM_032889.5(MFSD5):c.898C>T (p.Arg300Cys)	MFSD5 (R300C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294555	NM_032889.5(MFSD5):c.964G>A (p.Val322Ile)	MFSD5 (V322I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125803	NM_032889.5(MFSD5):c.1002C>A (p.Ser334Arg)	MFSD5 (S334R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125804	NM_032889.5(MFSD5):c.1019C>T (p.Pro340Leu)	MFSD5 (P340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294557	NM_032889.5(MFSD5):c.1064G>A (p.Gly355Glu)	MFSD5 (G462E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461255	NM_032889.5(MFSD5):c.1066T>G (p.Leu356Val)	MFSD5 (L463V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254599	NM_032889.5(MFSD5):c.1094G>T (p.Arg365Leu)	MFSD5 (R365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306697	NM_032889.5(MFSD5):c.1145G>A (p.Arg382Gln)	MFSD5 (R382Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248316	NM_032889.5(MFSD5):c.1216C>T (p.Arg406Trp)	MFSD5 (R513W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220011	NM_032889.5(MFSD5):c.1250T>G (p.Val417Gly)	MFSD5 (V524G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510663	NM_032889.5(MFSD5):c.1285G>A (p.Val429Met)	MFSD5 (V536M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591916	NM_032889.5(MFSD5):c.1309C>T (p.Arg437Trp)	MFSD5 (R437W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980437	GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	AAAS, PCBP2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
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 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47