Related gene-specific medical variations for Gene (Select 3071) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2789001	NM_005337.5(NCKAP1L):c.102+17G>T	LOC130008017, NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698757	NM_005337.5(NCKAP1L):c.102+18dup	LOC130008017, NCKAP1L	Duplication (intron variant)	not provided	GLikely benign
Select item 2434079	NM_005337.5(NCKAP1L):c.-797_-794del	NCKAP1L	Deletion	Immunodeficiency 72 with autoinflammation	GUncertain significance
Select item 2434078	NM_005337.5(NCKAP1L):c.2156+1G>C	NCKAP1L	Single nucleotide variant (splice donor variant)	Immunodeficiency 72 with autoinflammation	GUncertain significance
Select item 2434077	NM_005337.5(NCKAP1L):c.2691G>C (p.Gln897His)	NCKAP1L (Q847H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation	GUncertain significance
Select item 1933776	NM_005337.5(NCKAP1L):c.98A>G (p.Lys33Arg)	LOC130008017, NCKAP1L (K33R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1911859	NM_005337.5(NCKAP1L):c.102+8T>C	LOC130008017, NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900545	NM_005337.5(NCKAP1L):c.102+16G>A	LOC130008017, NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign

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