"Ambry Genetics"[submitter] AND "LOC114803468"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292486	NM_001394062.1(MACF1):c.14587T>G (p.Ser4863Ala)	LOC114803468, MACF1 (S4863A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2372308	NM_001394062.1(MACF1):c.14690G>A (p.Arg4897Lys)	LOC114803468, MACF1 (R4897K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263385	NM_001394062.1(MACF1):c.14853G>T (p.Glu4951Asp)	LOC114803468, MACF1 (E2889D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465470	NM_001394062.1(MACF1):c.14866C>T (p.Arg4956Cys)	LOC114803468, MACF1 (R2894C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2317980	NM_001394062.1(MACF1):c.14888A>C (p.Asn4963Thr)	LOC114803468, MACF1 (N4963T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216907	NM_001394062.1(MACF1):c.14941C>T (p.Arg4981Trp)	LOC114803468, MACF1 (R4981W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2602215	NM_001394062.1(MACF1):c.14942G>A (p.Arg4981Gln)	LOC114803468, MACF1 (R2919Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2054513	NM_001394062.1(MACF1):c.15016G>A (p.Glu5006Lys)	LOC114803468, MACF1 (E5006K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity