"Ambry Genetics"[submitter] AND "NBPF3"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2528778	NM_032264.6(NBPF3):c.107G>T (p.Arg36Leu)	NBPF3 (R36L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2276243	NM_032264.6(NBPF3):c.121C>G (p.Arg41Gly)	NBPF3 (R41G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2220595	NM_032264.6(NBPF3):c.228C>G (p.Ile76Met)	NBPF3 (I76M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2225118	NM_032264.6(NBPF3):c.283A>G (p.Lys95Glu)	NBPF3 (K39E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209031	NM_032264.6(NBPF3):c.307G>A (p.Val103Met)	NBPF3 (V103M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325336	NM_032264.6(NBPF3):c.390G>C (p.Glu130Asp)	NBPF3 (E74D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454343	NM_032264.6(NBPF3):c.410A>G (p.Lys137Arg)	NBPF3 (K67R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364201	NM_032264.6(NBPF3):c.530G>A (p.Arg177His)	NBPF3 (R107H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510361	NM_032264.6(NBPF3):c.566C>T (p.Pro189Leu)	NBPF3 (P133L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537833	NM_032264.6(NBPF3):c.584C>T (p.Ser195Phe)	NBPF3 (S125F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404525	NM_032264.6(NBPF3):c.592C>T (p.Arg198Trp)	NBPF3 (R128W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388855	NM_032264.6(NBPF3):c.841G>A (p.Gly281Arg)	NBPF3 (G225R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2227652	NM_032264.6(NBPF3):c.1150A>T (p.Ile384Leu)	NBPF3 (I384L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2348380	NM_032264.6(NBPF3):c.1246G>T (p.Val416Phe)	NBPF3 (V323F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600575	NM_032264.6(NBPF3):c.1519C>G (p.Pro507Ala)	NBPF3 (P437A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342704	NM_032264.6(NBPF3):c.1582G>A (p.Val528Ile)	NBPF3 (V472I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2373617	NM_032264.6(NBPF3):c.1807G>A (p.Val603Ile)	NBPF3 (V510I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2361988	NM_032264.6(NBPF3):c.1859G>A (p.Arg620Lys)	NBPF3 (R527K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance