"Illumina Laboratory Services, Illumina"[submitter] AND "ATP6V1B1"[gen - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369346	NM_001692.4(ATP6V1B1):c.-89A>G	ATP6V1B1	Single nucleotide variant	not provided +1 more	GBenign
Select item 336915	NM_001692.4(ATP6V1B1):c.-34C>T	ATP6V1B1	Single nucleotide variant (5 prime UTR variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GBenign
Select item 684162	NM_001692.4(ATP6V1B1):c.-19C>T	ATP6V1B1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336916	NM_001692.4(ATP6V1B1):c.-17C>T	ATP6V1B1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 44228	NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr)	ATP6V1B1 (M1T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 44227	NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 336917	NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 761407	NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)	ATP6V1B1 (G14S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 44231	NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)	ATP6V1B1 (T30I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 895244	NM_001692.4(ATP6V1B1):c.91C>A (p.Arg31=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 895245	NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys)	ATP6V1B1 (R38C)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +3 more	GUncertain significance
Select item 336918	NM_001692.4(ATP6V1B1):c.119-10C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 44225	NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 162759	NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +3 more	GBenign/Likely benign
Select item 632363	NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter)	ATP6V1B1 (Q61*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 227180	NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GConflicting classifications of pathogenicity
Select item 44226	NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	ATP6V1B1-related condition +3 more	GConflicting classifications of pathogenicity
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 896673	NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 734386	NM_001692.4(ATP6V1B1):c.612G>A (p.Ala204=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 44230	NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 228451	NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr)	ATP6V1B1 (A222T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 896674	NM_001692.4(ATP6V1B1):c.687+9A>G	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 162763	NM_001692.4(ATP6V1B1):c.688-7T>C	ATP6V1B1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 162762	NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)	ATP6V1B1 (A272V)	Single nucleotide variant (missense variant)	ATP6V1B1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 336919	NM_001692.4(ATP6V1B1):c.875C>T (p.Thr292Met)	ATP6V1B1 (T292M)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 336920	NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly)	ATP6V1B1 (E309G)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 336921	NM_001692.4(ATP6V1B1):c.993G>T (p.Arg331=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 44222	NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 336922	NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 897131	NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 336923	NM_001692.4(ATP6V1B1):c.1143+10T>C	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898294	NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 898295	NM_001692.4(ATP6V1B1):c.1199T>C (p.Ile400Thr)	ATP6V1B1 (I400T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44223	NM_001692.4(ATP6V1B1):c.1248+9A>G	ATP6V1B1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 336924	NM_001692.4(ATP6V1B1):c.1249-15_1249-11del	ATP6V1B1	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 898296	NM_001692.4(ATP6V1B1):c.1249-11C>T	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 336925	NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met)	ATP6V1B1 (V426M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336926	NM_001692.4(ATP6V1B1):c.1308G>A (p.Glu436=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178289	NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 898297	NM_001692.4(ATP6V1B1):c.1325A>G (p.Asp442Gly)	ATP6V1B1 (D442G)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 336927	NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GConflicting classifications of pathogenicity
Select item 228445	NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu)	ATP6V1B1 (P461L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 178290	NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)	ATP6V1B1 (R465H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 336928	NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu)	ATP6V1B1 (P490L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895309	NM_001692.4(ATP6V1B1):c.1478T>C (p.Val493Ala)	ATP6V1B1 (V493A)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 44221	NM_001692.4(ATP6V1B1):c.*6C>A	ATP6V1B1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 44220	NM_001692.4(ATP6V1B1):c.*12G>A	ATP6V1B1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 336929	NM_001692.4(ATP6V1B1):c.*53G>A	ATP6V1B1, LOC129934049	Single nucleotide variant (3 prime UTR variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 336930	NM_001692.4(ATP6V1B1):c.*68C>T	ATP6V1B1, LOC129934049	Single nucleotide variant (3 prime UTR variant)	Renal tubular acidosis with progressive nerve deafness	GBenign
Select item 336931	NM_001692.4(ATP6V1B1):c.*80C>T	ATP6V1B1, LOC129934049	Single nucleotide variant (3 prime UTR variant)	Renal tubular acidosis with progressive nerve deafness	GBenign
Select item 336932	NM_001692.4(ATP6V1B1):c.*211del	ATP6V1B1	Deletion (3 prime UTR variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance

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Items: 52