"Ambry Genetics"[submitter] AND "SERF2-C15ORF63"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2495524	NM_001018108.4(SERF2):c.117-63C>G	SERF2, SERF2-C15ORF63 (P63R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287300	NM_001018108.4(SERF2):c.174C>T (p.Pro58=)	SERF2, SERF2-C15ORF63 (P66L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2407808	NM_001018108.4(SERF2):c.*48G>C	SERF2-C15ORF63, SERF2 (G84A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2341654	NM_001018108.4(SERF2):c.*50G>A	SERF2-C15ORF63, SERF2 (A122T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2339296	NM_001018108.4(SERF2):c.*173C>A	SERF2-C15ORF63, SERF2 (L126I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326536	NM_016400.4(HYPK):c.-18C>T	HYPK, SERF2-C15ORF63 (R3W)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325245	NM_016400.4(HYPK):c.-17G>A	SERF2-C15ORF63, HYPK (R3Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2541089	NM_016400.4(HYPK):c.12G>C (p.Glu4Asp)	HYPK, SERF2-C15ORF63 (E12D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555960	NM_016400.4(HYPK):c.13G>A (p.Gly5Arg)	HYPK, SERF2-C15ORF63 (G13R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369662	NM_016400.4(HYPK):c.271A>G (p.Met91Val)	HYPK, SERF2-C15ORF63 (M91V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance