MFSD14A[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 2239674	NM_033055.3(MFSD14A):c.1055C>T (p.Pro352Leu)	MFSD14A (P352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125773	NM_033055.3(MFSD14A):c.1217C>G (p.Thr406Arg)	MFSD14A (T406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409326	NM_033055.3(MFSD14A):c.1357A>C (p.Asn453His)	MFSD14A (N453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685813	GRCh37/hg19 1p21.2(chr1:99854049-100524271)x3	AGL, FRRS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic