"OMIM"[submitter] AND "ATP6V1B1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12225	NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter)	ATP6V1B1 (R31*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 12229	NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)	ATP6V1B1 (G78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 12228	NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	ATP6V1B1 (L81P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 562411	NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs)	ATP6V1B1 (T166fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 12227	NM_001692.4(ATP6V1B1):c.585+1G>A	ATP6V1B1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555327	NM_001692.4(ATP6V1B1):c.1248+1G>C	ATP6V1B1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic

ClinVar