MFSD11[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2374008	NM_001195427.2(SRSF2):c.317C>T (p.Pro106Leu)	MFSD11, SRSF2 (P106L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2504111	NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)	MFSD11, SRSF2 (P95L)	Single nucleotide variant (missense variant +2 more)	Acute myeloid leukemia +1 more	GPathogenic
Select item 998075	NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)	MFSD11, SRSF2 (P95R)	Single nucleotide variant (missense variant +2 more)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 2648320	NM_001195427.2(SRSF2):c.183C>T (p.Arg61=)	MFSD11, SRSF2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3058855	NM_001195427.2(SRSF2):c.144C>T (p.Asp48=)	MFSD11, SRSF2	Single nucleotide variant (synonymous variant +2 more)	SRSF2-related condition	GBenign
Select item 3125766	NM_001242532.5(MFSD11):c.47T>C (p.Val16Ala)	MFSD11 (V16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328460	NM_001242532.5(MFSD11):c.52T>C (p.Phe18Leu)	MFSD11 (F18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395964	NM_001242532.5(MFSD11):c.106A>G (p.Ile36Val)	MFSD11 (I36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269800	NM_001242532.5(MFSD11):c.228A>C (p.Gln76His)	MFSD11 (Q76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310890	NM_001242532.5(MFSD11):c.352G>A (p.Ala118Thr)	MFSD11 (A118T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207979	NM_001242532.5(MFSD11):c.394A>G (p.Ile132Val)	MFSD11 (I132V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330052	NM_001242532.5(MFSD11):c.425T>A (p.Leu142His)	MFSD11 (L142H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297196	NM_001242532.5(MFSD11):c.470C>T (p.Ala157Val)	MFSD11 (A157V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312300	NM_001242532.5(MFSD11):c.519T>G (p.Phe173Leu)	MFSD11 (F121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125767	NM_001242532.5(MFSD11):c.553G>A (p.Val185Ile)	MFSD11 (V133I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481883	NM_001242532.5(MFSD11):c.565C>A (p.Leu189Ile)	MFSD11 (L189I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294227	NM_001242532.5(MFSD11):c.656A>G (p.Asn219Ser)	MFSD11 (N167S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125770	NM_001242532.5(MFSD11):c.670G>C (p.Val224Leu)	MFSD11 (V172L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239987	NM_001242532.5(MFSD11):c.796G>A (p.Ala266Thr)	MFSD11 (A214T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125771	NM_001242532.5(MFSD11):c.841T>G (p.Ser281Ala)	MFSD11 (S229A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595886	NM_001242532.5(MFSD11):c.844G>T (p.Gly282Cys)	MFSD11 (G230C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486420	NM_001242532.5(MFSD11):c.857G>A (p.Gly286Asp)	MFSD11 (G234D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292335	NM_001242532.5(MFSD11):c.877G>A (p.Gly293Arg)	MFSD11 (G241R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515672	NM_001242532.5(MFSD11):c.889G>A (p.Gly297Ser)	MFSD11 (G245S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488809	NM_001242532.5(MFSD11):c.907A>G (p.Asn303Asp)	MFSD11 (N303D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234687	NM_001242532.5(MFSD11):c.910C>A (p.Arg304Ser)	MFSD11 (R252S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125772	NM_001242532.5(MFSD11):c.957C>G (p.Phe319Leu)	MFSD11 (F319L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602354	NM_001242532.5(MFSD11):c.959T>C (p.Ile320Thr)	MFSD11 (I268T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484934	NM_001242532.5(MFSD11):c.979C>A (p.Leu327Ile)	MFSD11 (L327I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231087	NM_001242532.5(MFSD11):c.1327G>A (p.Gly443Ser)	MFSD11 (G391S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125764	NM_001242532.5(MFSD11):c.1340G>A (p.Arg447Gln)	MFSD11 (R395Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +146 more	Copy number gain	not provided	GPathogenic
Select item 1340578	GRCh37/hg19 17q25.1-25.2(chr17:74738014-74835074)x1	MFSD11	Copy number loss	not provided	GLikely benign
Select item 815955	GRCh37/hg19 17q25.1-25.2(chr17:74742740-74835074)x1	MFSD11	Copy number loss	not provided	GLikely benign
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 47