"Institute of Human Genetics, Cologne University"[submitter] AND "MACF - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983274	NM_001394062.1(MACF1):c.188A>G (p.Asn63Ser)	MACF1 (N100S +1 more)	Single nucleotide variant (missense variant)	Spectraplakinopathy type I +3 more	GConflicting classifications of pathogenicity
Select item 983273	NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met)	MACF1 (L1354M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 806109	NM_001394062.1(MACF1):c.12857C>T (p.Ala4286Val)	MACF1 (A2224V +1 more)	Single nucleotide variant (missense variant)	Spectraplakinopathy type I +2 more	GConflicting classifications of pathogenicity
Select item 983275	NM_001394062.1(MACF1):c.13058G>A (p.Ser4353Asn)	MACF1 (S2291N +1 more)	Single nucleotide variant (missense variant)	Spectraplakinopathy type I	GUncertain significance
Select item 983271	NM_001394062.1(MACF1):c.13379A>G (p.Asn4460Ser)	MACF1 (N2398S +1 more)	Single nucleotide variant (missense variant)	Spectraplakinopathy type I	GUncertain significance
Select item 983272	NM_001394062.1(MACF1):c.19747A>G (p.Ile6583Val)	MACF1 (I4524V +1 more)	Single nucleotide variant (missense variant)	Spectraplakinopathy type I	GUncertain significance

ClinVar