"Ambry Genetics"[submitter] AND "NABP1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172510	NM_001031716.5(NABP1):c.14A>G (p.Asn5Ser)	NABP1 (N5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220024	NM_001031716.5(NABP1):c.37G>A (p.Asp13Asn)	NABP1 (D13N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172529	NM_001031716.5(NABP1):c.41T>C (p.Ile14Thr)	NABP1 (I14T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489149	NM_001031716.5(NABP1):c.59A>G (p.Asn20Ser)	NABP1 (N20S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556388	NM_001031716.5(NABP1):c.94C>T (p.Arg32Cys)	NABP1 (R32C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172546	NM_001031716.5(NABP1):c.95G>A (p.Arg32His)	NABP1 (R32H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621851	NM_001031716.5(NABP1):c.115G>A (p.Gly39Ser)	NABP1 (G39S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172514	NM_001031716.5(NABP1):c.281G>T (p.Gly94Val)	NABP1 (G94V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262940	NM_001031716.5(NABP1):c.313G>A (p.Val105Ile)	NABP1 (V105I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522022	NM_001031716.5(NABP1):c.376G>C (p.Gly126Arg)	NABP1 (G126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292892	NM_001031716.5(NABP1):c.470A>G (p.Glu157Gly)	NABP1 (E157G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527956	NM_001031716.5(NABP1):c.484C>G (p.Gln162Glu)	NABP1 (Q162E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172540	NM_001031716.5(NABP1):c.544A>G (p.Thr182Ala)	NABP1 (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172541	NM_001031716.5(NABP1):c.553A>G (p.Asn185Asp)	NABP1 (N105D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance