"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GET1-SH3BG - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652665	NM_152505.4(LCA5L):c.1863C>G (p.Gly621=)	GET1, GET1-SH3BGR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2652666	NM_152505.4(LCA5L):c.1722T>C (p.Tyr574=)	GET1, GET1-SH3BGR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652667	NM_152505.4(LCA5L):c.1536C>G (p.Pro512=)	GET1, GET1-SH3BGR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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