ClinVar for Gene (Select 129995219) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2988703	NM_004946.3(DOCK2):c.43+8C>A	DOCK2, LOC129995219	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2027377	NM_004946.3(DOCK2):c.6C>A (p.Ala2=)	DOCK2, LOC129995219	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2007947	NM_004946.3(DOCK2):c.43+20C>A	DOCK2, LOC129995219	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1978946	NM_004946.3(DOCK2):c.22G>A (p.Asp8Asn)	DOCK2, LOC129995219 (D8N)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1418213	NM_004946.3(DOCK2):c.32G>A (p.Arg11Gln)	DOCK2, LOC129995219 (R11Q)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1150574	NM_004946.3(DOCK2):c.31C>A (p.Arg11=)	DOCK2, LOC129995219	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 153055	GRCh38/hg38 5q35.1(chr5:169309260-169816053)x3	DOCK2, LOC126807589 +14 more	Copy number gain	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic