"Genome-Nilou Lab"[submitter] AND "LOC126805822"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 703857	NM_001368809.2(AMPD2):c.1080+9T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +2 more	GBenign/Likely benign
Select item 474994	NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +2 more	GBenign
Select item 424691	NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)	AMPD2, LOC126805822 (V330M +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 578069	NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)	AMPD2, LOC126805822 (R334C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1497395	NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met)	AMPD2, LOC126805822 (T337M +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 1166969	NM_001368809.2(AMPD2):c.1272T>C (p.His424=)	LOC126805822, AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +2 more	GBenign
Select item 1210749	NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 665782	NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)	AMPD2, LOC126805822 (I379T +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 813899	NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)	AMPD2, LOC126805822 (R385* +3 more)	Single nucleotide variant (nonsense)	Pontoneocerebellar hypoplasia +2 more	GPathogenic/Likely pathogenic
Select item 1181251	NM_001368809.2(AMPD2):c.1408-12C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +2 more	GBenign/Likely benign
Select item 1311823	NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn)	AMPD2, LOC126805822 (H443N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 393168	NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr)	AMPD2, LOC126805822 (H443Y +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 1938758	NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)	AMPD2, LOC126805822 (V488M +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 703122	NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +2 more	GBenign/Likely benign
Select item 1206649	NM_001368809.2(AMPD2):c.1699-11T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +2 more	GLikely benign