"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NBEAL2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380966	NM_015175.3(NBEAL2):c.427G>T (p.Glu143Ter)	NBEAL2 (E136* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3380967	NM_015175.3(NBEAL2):c.532C>T (p.Gln178Ter)	NBEAL2 (Q171* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3379454	NM_015175.3(NBEAL2):c.919A>C (p.Met307Leu)	NBEAL2 (M300L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345624	NM_015175.3(NBEAL2):c.1271G>A (p.Arg424Gln)	NBEAL2 (R424Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380968	NM_015175.3(NBEAL2):c.2440C>T (p.Gln814Ter)	NBEAL2 (Q780* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3379455	NM_015175.3(NBEAL2):c.2612G>A (p.Arg871His)	NBEAL2 (R837H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379456	NM_015175.3(NBEAL2):c.2698G>C (p.Glu900Gln)	NBEAL2 (E866Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773441	NM_015175.3(NBEAL2):c.3384+5G>A	NBEAL2	Single nucleotide variant (intron variant)	NBEAL2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3379457	NM_015175.3(NBEAL2):c.5351G>A (p.Arg1784His)	NBEAL2 (R1750H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379458	NM_015175.3(NBEAL2):c.5998C>T (p.Leu2000Phe)	NBEAL2 (L1966F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627106	NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln)	NBEAL2 (R2120Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 3379460	NM_015175.3(NBEAL2):c.7091G>A (p.Ser2364Asn)	NBEAL2 (S2330N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379461	NM_015175.3(NBEAL2):c.7111G>A (p.Glu2371Lys)	NBEAL2 (E2337K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 903569	NM_015175.3(NBEAL2):c.7280G>A (p.Arg2427His)	NBEAL2 (R2393H +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome +1 more	GUncertain significance