C0403554[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162759	NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 227181	NM_001692.4(ATP6V1B1):c.368-6C>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 227182	NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 44229	NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)	ATP6V1B1 (E161K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 554501	NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)	ATP6V1B1 (E162*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness	GPathogenic/Likely pathogenic
Select item 227183	NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 228450	NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln)	ATP6V1B1 (H217Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +3 more	GUncertain significance
Select item 44230	NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 226462	NM_001692.4(ATP6V1B1):c.785+10C>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 162762	NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)	ATP6V1B1 (A272V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554502	NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro)	ATP6V1B1 (R302P)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 554499	NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)	ATP6V1B1 (R315*)	Single nucleotide variant (nonsense)	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)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic
Select item 44223	NM_001692.4(ATP6V1B1):c.1248+9A>G	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GBenign
Select item 336928	NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu)	ATP6V1B1 (P490L)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 44220	NM_001692.4(ATP6V1B1):c.*12G>A	ATP6V1B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign