"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP6V1B2" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049281	NM_001693.4(ATP6V1B2):c.-1G>C	ATP6V1B2, LOC129999955	Single nucleotide variant (5 prime UTR variant)	ATP6V1B2-related disorder	GLikely benign
Select item 2636856	NM_001693.4(ATP6V1B2):c.35G>A (p.Gly12Glu)	ATP6V1B2 (G12E)	Single nucleotide variant (missense variant)	ATP6V1B2-related disorder	GUncertain significance
Select item 3031792	NM_001693.4(ATP6V1B2):c.366G>A (p.Pro122=)	ATP6V1B2	Single nucleotide variant (synonymous variant)	ATP6V1B2-related disorder	GLikely benign
Select item 3047242	NM_001693.4(ATP6V1B2):c.705+7A>T	ATP6V1B2	Single nucleotide variant (intron variant)	ATP6V1B2-related disorder	GLikely benign
Select item 2631811	NM_001693.4(ATP6V1B2):c.995C>T (p.Ala332Val)	ATP6V1B2 (A332V)	Single nucleotide variant (missense variant)	ATP6V1B2-related disorder	GUncertain significance
Select item 2632434	NM_001693.4(ATP6V1B2):c.1015G>A (p.Gly339Arg)	ATP6V1B2 (G339R)	Single nucleotide variant (missense variant)	ATP6V1B2-related disorder	GUncertain significance
Select item 726533	NM_001693.4(ATP6V1B2):c.1194A>G (p.Leu398=)	ATP6V1B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

ClinVar