"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "C2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025505	NM_181842.3(ZBTB12):c.1269C>G (p.Arg423=)	C2, ZBTB12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 493426	NM_000063.6(C2):c.345C>T (p.Phe115=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 50634	NM_000063.6(C2):c.841_849+19del	C2 (V281fs)	Deletion (frameshift variant +2 more)	C2-related disorders +4 more	GConflicting classifications of pathogenicity
Select item 2656432	NM_000063.6(C2):c.849+75C>T	C2	Single nucleotide variant (synonymous variant +1 more)	C2-related condition +1 more	GLikely benign
Select item 2192515	NM_000063.6(C2):c.1155C>T (p.Pro385=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493427	NM_000063.6(C2):c.1219+7C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1485986	NM_000063.6(C2):c.1748C>G (p.Pro583Arg)	C2 (P369R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356258	NM_000063.6(C2):c.2046A>G (p.Ala682=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +5 more	GBenign/Likely benign
Select item 356285	NM_001710.6(CFB):c.1143C>T (p.Arg381=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +5 more	GBenign/Likely benign

ClinVar