"PreventionGenetics, part of Exact Sciences"[submitter] AND "AMPD2"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1921503	NM_001368809.2(AMPD2):c.282C>T (p.Pro94=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +2 more	GLikely benign
Select item 541841	NM_001368809.2(AMPD2):c.353+10G>A	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +2 more	GLikely benign
Select item 1531340	NM_001368809.2(AMPD2):c.726G>A (p.Pro242=)	AMPD2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2949377	NM_001368809.2(AMPD2):c.831C>T (p.His277=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +2 more	GLikely benign
Select item 1600748	NM_001368809.2(AMPD2):c.855C>T (p.Asp285=)	AMPD2	Single nucleotide variant (synonymous variant)	AMPD2-related disorder +2 more	GBenign
Select item 3052064	NM_001368809.2(AMPD2):c.864C>T (p.Cys288=)	AMPD2	Single nucleotide variant (synonymous variant)	AMPD2-related disorder	GLikely benign
Select item 3038095	NM_001368809.2(AMPD2):c.1029G>A (p.Glu343=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder	GLikely benign
Select item 703857	NM_001368809.2(AMPD2):c.1080+9T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	AMPD2-related disorder +3 more	GBenign/Likely benign
Select item 1986137	NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder +2 more	GLikely benign
Select item 3033482	NM_001368809.2(AMPD2):c.1263G>A (p.Leu421=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder	GLikely benign
Select item 434144	NM_001368809.2(AMPD2):c.1407+3A>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 703122	NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder +3 more	GBenign/Likely benign
Select item 2228440	NM_001368809.2(AMPD2):c.1698C>T (p.His566=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1206649	NM_001368809.2(AMPD2):c.1699-11T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 789422	NM_001368809.2(AMPD2):c.2082G>A (p.Pro694=)	AMPD2	Single nucleotide variant (synonymous variant)	AMPD2-related disorder +1 more	GBenign
Select item 3054693	NM_001368809.2(AMPD2):c.2253C>T (p.Ser751=)	AMPD2	Single nucleotide variant (synonymous variant)	AMPD2-related disorder	GLikely benign
Select item 1673989	NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +3 more	GBenign/Likely benign