"GeneDx"[submitter] AND "LOC126805822"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 703857	NM_001368809.2(AMPD2):c.1080+9T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 474994	NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +2 more	GBenign
Select item 578069	NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)	AMPD2, LOC126805822 (R334C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +3 more	GUncertain significance
Select item 210136	NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +3 more	GConflicting classifications of pathogenicity
Select item 1166969	NM_001368809.2(AMPD2):c.1272T>C (p.His424=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	not provided +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 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 2580688	NM_001368809.2(AMPD2):c.1364C>T (p.Thr455Met)	AMPD2, LOC126805822 (T391M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434144	NM_001368809.2(AMPD2):c.1407+3A>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1257817	NM_001368809.2(AMPD2):c.1407+50del	AMPD2, LOC126805822	Deletion (intron variant)	not provided	GBenign
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)	Hereditary spastic paraplegia 63 +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)	not provided +2 more	GUncertain significance
Select item 2499780	NM_001368809.2(AMPD2):c.1523G>A (p.Arg508His)	AMPD2, LOC126805822 (R444H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249640	NM_001368809.2(AMPD2):c.1571+32C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179317	NM_001368809.2(AMPD2):c.1571+97C>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218647	NM_001368809.2(AMPD2):c.1571+124A>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292880	NM_001368809.2(AMPD2):c.1572-26A>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 703122	NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	not provided +3 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 +3 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22