"Ambry Genetics"[submitter] AND "NBPF1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298642	NM_001405666.3(NBPF1):c.1495A>T (p.Asn499Tyr)	NBPF1 (N393Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400897	NM_001405666.3(NBPF1):c.1349C>A (p.Ala450Asp)	NBPF1 (A344D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353530	NM_001405666.3(NBPF1):c.999G>C (p.Glu333Asp)	NBPF1 (E227D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326928	NM_001405666.3(NBPF1):c.763G>C (p.Val255Leu)	NBPF1 (V149L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250710	NM_001405666.3(NBPF1):c.715= (p.Ala239=)	NBPF1 (T239A)	Single nucleotide variant (no sequence alteration +2 more)	not specified	GUncertain significance
Select item 2300041	NM_001405666.3(NBPF1):c.199A>T (p.Ile67Leu)	NBPF1 (I67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293148	NM_001405666.3(NBPF1):c.178T>G (p.Tyr60Asp)	NBPF1 (Y60D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213849	NM_001405666.3(NBPF1):c.168G>C (p.Lys56Asn)	NBPF1 (K56N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281494	NM_001405666.3(NBPF1):c.60C>G (p.Ile20Met)	NBPF1 (I20M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400612	NM_001405666.3(NBPF1):c.55G>A (p.Glu19Lys)	NBPF1 (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179584	NM_001405666.3(NBPF1):c.42G>T (p.Glu14Asp)	NBPF1 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212586	NM_001405666.3(NBPF1):c.23G>T (p.Trp8Leu)	NBPF1 (W8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance