"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DOCK1"[gen - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2640959	NM_001290223.2(DOCK1):c.1485G>A (p.Ala495=)	DOCK1, LOC105378552	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640960	NM_001290223.2(DOCK1):c.2550C>T (p.Pro850=)	DOCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640961	NM_001290223.2(DOCK1):c.4644C>T (p.Asn1548=)	DOCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic

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