Related gene-specific medical variations for Gene (Select 9683) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170563	NM_153029.4(N4BP1):c.79A>C (p.Ile27Leu)	LOC130058963, N4BP1 (I27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170545	NM_153029.4(N4BP1):c.67A>G (p.Ser23Gly)	LOC130058963, N4BP1 (S23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170518	NM_153029.4(N4BP1):c.188A>C (p.His63Pro)	LOC130058963, N4BP1 (H63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170510	NM_153029.4(N4BP1):c.182C>A (p.Ala61Glu)	LOC130058963, N4BP1 (A61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605873	NM_153029.4(N4BP1):c.170G>A (p.Gly57Glu)	LOC130058963, N4BP1 (G57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534296	NM_153029.4(N4BP1):c.167G>T (p.Cys56Phe)	LOC130058963, N4BP1 (C56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534295	NM_153029.4(N4BP1):c.166T>C (p.Cys56Arg)	LOC130058963, N4BP1 (C56R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809439	GRCh37/hg19 16q12.1(chr16:48440455-48916593)x3	N4BP1	Copy number gain	not provided	GUncertain significance

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