NIFK-AS1[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 3200066	NM_032390.5(NIFK):c.769A>G (p.Lys257Glu)	NIFK, NIFK-AS1 (K257E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 719899	NM_032390.5(NIFK):c.741_742dup (p.Gln248fs)	NIFK, NIFK-AS1 (Q248fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2223379	NM_032390.5(NIFK):c.716C>T (p.Pro239Leu)	NIFK, NIFK-AS1 (P239L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2474227	NM_032390.5(NIFK):c.652T>G (p.Ser218Ala)	NIFK, NIFK-AS1 (S218A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3200064	NM_032390.5(NIFK):c.632G>T (p.Arg211Leu)	NIFK, NIFK-AS1 (R211L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2333962	NM_032390.5(NIFK):c.632G>A (p.Arg211His)	NIFK, NIFK-AS1 (R211H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3200063	NM_032390.5(NIFK):c.631C>T (p.Arg211Cys)	NIFK, NIFK-AS1 (R211C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3200062	NM_032390.5(NIFK):c.608C>T (p.Thr203Met)	NIFK, NIFK-AS1 (T203M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance