"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GOLGA6A"[g - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672593	NM_001038640.2(GOLGA6A):c.1932T>G (p.Leu644=)	GOLGA6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645533	NM_001038640.2(GOLGA6A):c.1104G>A (p.Arg368=)	GOLGA6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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