"PreventionGenetics, part of Exact Sciences"[submitter] AND "GDAP2"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038943	NM_017686.4(GDAP2):c.1465A>G (p.Thr489Ala)	GDAP2 (T489A)	Single nucleotide variant (missense variant)	GDAP2-related disorder	GBenign
Select item 3055753	NM_017686.4(GDAP2):c.1303-10T>C	GDAP2	Single nucleotide variant (intron variant)	GDAP2-related disorder	GBenign
Select item 2639033	NM_017686.4(GDAP2):c.1302+3A>G	GDAP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2636870	NM_017686.4(GDAP2):c.1048C>T (p.Arg350Ter)	GDAP2 (R350*)	Single nucleotide variant (nonsense)	GDAP2-related disorder	GLikely pathogenic
Select item 3040307	NM_017686.4(GDAP2):c.759A>G (p.Arg253=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GLikely benign
Select item 3040411	NM_017686.4(GDAP2):c.753T>C (p.Pro251=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GLikely benign
Select item 3037617	NM_017686.4(GDAP2):c.561C>G (p.Arg187=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GBenign
Select item 3037489	NM_017686.4(GDAP2):c.264T>C (p.Ser88=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GBenign
Select item 3034487	NM_017686.4(GDAP2):c.66A>G (p.Ser22=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GBenign

ClinVar