ClinVar for MedGen (Select 283928) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319838	NM_001172501.3(SLC6A2):c.*1017G>A	SLC6A2	Single nucleotide variant (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319834	NM_001172501.3(SLC6A2):c.919_921del	SLC6A2	Deletion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319825	NM_001172501.3(SLC6A2):c.*416del	SLC6A2	Deletion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319824	NM_001172501.3(SLC6A2):c.414_415insC	SLC6A2	Insertion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319823	NM_001172501.3(SLC6A2):c.401_402insCA	SLC6A2	Insertion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319822	NM_001172501.3(SLC6A2):c.414_415dup	SLC6A2	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 319821	NM_001172501.3(SLC6A2):c.*415dup	SLC6A2	Duplication (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GLikely benign
Select item 319819	NM_001172501.3(SLC6A2):c.396_397dup	SLC6A2	Duplication (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319817	NM_001172501.3(SLC6A2):c.*306C>T	SLC6A2	Single nucleotide variant (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 14006	NM_001172501.3(SLC6A2):c.1369G>C (p.Ala457Pro)	SLC6A2 (A457P +1 more)	Single nucleotide variant (missense variant)	Neurocirculatory asthenia	GPathogenic