"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ATP6V1B1"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 957463	NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu)	ATP6V1B1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1210757	NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser)	ATP6V1B1 (A2S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 966396	NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)	ATP6V1B1 (L12fs)	Indel (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GPathogenic/Likely pathogenic
Select item 1156743	NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 895245	NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys)	ATP6V1B1 (R38C)	Single nucleotide variant (missense variant)	ATP6V1B1-related disorder +3 more	GUncertain significance
Select item 1065019	NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His)	ATP6V1B1 (R38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 765458	NM_001692.4(ATP6V1B1):c.118+10C>T	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1677023	NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs)	ATP6V1B1, ATP6V1B1-AS1 (S46fs)	Deletion (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 1683918	NM_001692.4(ATP6V1B1):c.172A>C (p.Lys58Gln)	ATP6V1B1, ATP6V1B1-AS1 (K58Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 514413	NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GLikely benign
Select item 1153257	NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 12229	NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)	ATP6V1B1 (G78R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12228	NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	ATP6V1B1 (L81P)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic
Select item 1499499	NM_001692.4(ATP6V1B1):c.273+2T>A	ATP6V1B1	Single nucleotide variant (splice donor variant)	ATP6V1B1-related disorder +2 more	GLikely pathogenic
Select item 991641	NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn)	ATP6V1B1 (D100N)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 638431	NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)	ATP6V1B1 (R114Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1153247	NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 726672	NM_001692.4(ATP6V1B1):c.367+10A>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1555944	NM_001692.4(ATP6V1B1):c.367+20A>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 794520	NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 504550	NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val)	ATP6V1B1 (A141V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1112341	NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1143994	NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1313362	NM_001692.4(ATP6V1B1):c.511A>G (p.Ile171Val)	ATP6V1B1 (I171V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 862369	NM_001692.4(ATP6V1B1):c.512T>C (p.Ile171Thr)	ATP6V1B1 (I171T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1159850	NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1607602	NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1157646	NM_001692.4(ATP6V1B1):c.585+7C>G	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 1493614	NM_001692.4(ATP6V1B1):c.605G>A (p.Arg202His)	ATP6V1B1 (R202H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1432782	NM_001692.4(ATP6V1B1):c.808C>T (p.Arg270Cys)	ATP6V1B1 (R270C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 991643	NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met)	ATP6V1B1 (V311M)	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 504551	NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln)	ATP6V1B1 (R331Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +3 more	GUncertain significance
Select item 958554	NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs)	ATP6V1B1 (V335fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280139	NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)	ATP6V1B1 (P346R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1444076	NM_001692.4(ATP6V1B1):c.1121A>G (p.Asp374Gly)	ATP6V1B1 (D374G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 966948	NM_001692.4(ATP6V1B1):c.1161C>G (p.Asn387Lys)	ATP6V1B1 (N387K)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
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 1573901	NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1312811	NM_001692.4(ATP6V1B1):c.1228G>C (p.Gly410Arg)	ATP6V1B1 (G410R)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 504552	NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1458465	NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs)	ATP6V1B1 (Y420fs)	Duplication (frameshift variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic
Select item 228444	NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile)	ATP6V1B1 (M429I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44224	NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala)	ATP6V1B1 (V433A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 228445	NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu)	ATP6V1B1 (P461L)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +3 more	GUncertain significance
Select item 801719	NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)	ATP6V1B1 (Y462*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic/Likely pathogenic
Select item 1071558	NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs)	ATP6V1B1 (F468fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
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 505442	NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GLikely benign

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Items: 55