ClinVar for MedGen (Select 1749856) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064095	NM_013436.5(NCKAP1):c.3280G>T (p.Glu1094Ter)	NCKAP1 (E1094* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 72 with autoinflammation	GLikely pathogenic
Select item 2968889	NM_005337.5(NCKAP1L):c.2718G>C (p.Lys906Asn)	NCKAP1L (K856N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation +1 more	GUncertain significance
Select item 2585458	NM_005337.5(NCKAP1L):c.2T>C (p.Met1Thr)	NCKAP1L (M1T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 72 with autoinflammation	GLikely pathogenic
Select item 2444020	NM_005337.5(NCKAP1L):c.2862+1G>A	NCKAP1L	Single nucleotide variant (splice donor variant)	Immunodeficiency 72 with autoinflammation	GPathogenic
Select item 2444019	NM_005337.5(NCKAP1L):c.421G>T (p.Val141Phe)	NCKAP1L (V91F)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation	GPathogenic
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 2043680	NM_005337.5(NCKAP1L):c.736A>C (p.Met246Leu)	NCKAP1L (M196L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation +1 more	GConflicting classifications of pathogenicity
Select item 1185045	NM_005337.5(NCKAP1L):c.385C>T (p.Arg129Trp)	NCKAP1L (R79W)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation	GPathogenic
Select item 976849	NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu)	NCKAP1L (R258L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation	GLikely pathogenic
Select item 976848	NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val)	NCKAP1L (M371V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation	GLikely pathogenic
Select item 976847	NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu)	NCKAP1L (V519L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation	GLikely pathogenic
Select item 976846	NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)	NCKAP1L (P359L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation	GLikely pathogenic