ATOH1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 152884	GRCh38/hg38 4q22.1-22.2(chr4:90585759-94055316)x3	ATOH1, CCSER1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 148666	GRCh38/hg38 4q22.1-22.3(chr4:92087558-94308725)x1	ATOH1, GRID2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 161061	GRCh38/hg38 4q22.1-22.2(chr4:92513191-94071223)x3	ATOH1, GRID2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 31981	GRCh38/hg38 4q22.1-22.2(chr4:92513191-94071223)x3	ATOH1, GRID2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 155131	GRCh38/hg38 4q22.2-22.3(chr4:93368807-94200572)x1	ATOH1, GRID2 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2337547	NM_005172.2(ATOH1):c.22G>C (p.Glu8Gln)	ATOH1 (E8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278136	NM_005172.2(ATOH1):c.57C>A (p.His19Gln)	ATOH1 (H19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249775	NM_005172.2(ATOH1):c.73C>T (p.Pro25Ser)	ATOH1 (P25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315889	NM_005172.2(ATOH1):c.133G>C (p.Glu45Gln)	ATOH1 (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042844	NM_005172.2(ATOH1):c.135G>A (p.Glu45=)	ATOH1	Single nucleotide variant (synonymous variant)	ATOH1-related disorder	GLikely benign
Select item 2468401	NM_005172.2(ATOH1):c.149C>T (p.Pro50Leu)	ATOH1 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049113	NM_005172.2(ATOH1):c.150G>A (p.Pro50=)	ATOH1	Single nucleotide variant (synonymous variant)	ATOH1-related disorder	GBenign
Select item 3131123	NM_005172.2(ATOH1):c.179A>T (p.Asp60Val)	ATOH1 (D60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283026	NM_005172.2(ATOH1):c.187G>A (p.Ala63Thr)	ATOH1 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232572	NM_005172.2(ATOH1):c.254C>T (p.Pro85Leu)	ATOH1 (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218234	NM_005172.2(ATOH1):c.283C>T (p.Pro95Ser)	ATOH1 (P95S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2554747	NM_005172.2(ATOH1):c.287G>T (p.Arg96Leu)	ATOH1 (R96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225620	NM_005172.2(ATOH1):c.292G>A (p.Glu98Lys)	ATOH1 (E98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491740	NM_005172.2(ATOH1):c.326G>A (p.Ser109Asn)	ATOH1 (S109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271502	NM_005172.2(ATOH1):c.338C>T (p.Ala113Val)	ATOH1 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785105	NM_005172.2(ATOH1):c.414C>G (p.Asp138Glu)	ATOH1 (D138E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3131125	NM_005172.2(ATOH1):c.431G>A (p.Arg144His)	ATOH1 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631847	NM_005172.2(ATOH1):c.442C>T (p.Pro148Ser)	ATOH1 (P148S)	Single nucleotide variant (missense variant)	ATOH1-related disorder	GUncertain significance
Select item 3131126	NM_005172.2(ATOH1):c.466G>T (p.Val156Leu)	ATOH1 (V156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 873538	NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly)	ATOH1 (R161G)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 2311256	NM_005172.2(ATOH1):c.485T>A (p.Leu162Gln)	ATOH1 (L162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352565	NM_005172.2(ATOH1):c.521G>C (p.Gly174Ala)	ATOH1 (G174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488571	NM_005172.2(ATOH1):c.541C>A (p.Gln181Lys)	ATOH1 (Q181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783425	NM_005172.2(ATOH1):c.573C>T (p.Asn191=)	ATOH1	Single nucleotide variant (synonymous variant)	ATOH1-related disorder +1 more	GBenign
Select item 3131127	NM_005172.2(ATOH1):c.611C>A (p.Ala204Asp)	ATOH1 (A204D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263488	NM_005172.2(ATOH1):c.659G>A (p.Gly220Glu)	ATOH1 (G220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036732	NM_005172.2(ATOH1):c.674C>G (p.Pro225Arg)	ATOH1 (P225R)	Single nucleotide variant (missense variant)	ATOH1-related disorder	GLikely benign
Select item 2519811	NM_005172.2(ATOH1):c.689C>T (p.Ser230Phe)	ATOH1 (S230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517795	NM_005172.2(ATOH1):c.698G>T (p.Ser233Ile)	ATOH1 (S233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773455	NM_005172.2(ATOH1):c.711C>A (p.His237Gln)	ATOH1 (H237Q)	Single nucleotide variant (missense variant)	ATOH1-related disorder +1 more	GBenign
Select item 2223593	NM_005172.2(ATOH1):c.731A>G (p.Tyr244Cys)	ATOH1 (Y244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637384	NM_005172.2(ATOH1):c.756dup (p.Ala253fs)	ATOH1 (A253fs)	Duplication (frameshift variant)	ATOH1-related disorder	GUncertain significance
Select item 767965	NM_005172.2(ATOH1):c.808G>C (p.Gly270Arg)	ATOH1 (G270R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2369864	NM_005172.2(ATOH1):c.809G>A (p.Gly270Glu)	ATOH1 (G270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521704	NM_005172.2(ATOH1):c.817C>G (p.Arg273Gly)	ATOH1 (R273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131128	NM_005172.2(ATOH1):c.823C>T (p.Arg275Cys)	ATOH1 (R275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039537	NM_005172.2(ATOH1):c.846G>C (p.Ala282=)	ATOH1	Single nucleotide variant (synonymous variant)	ATOH1-related disorder	GLikely benign
Select item 2235647	NM_005172.2(ATOH1):c.868G>A (p.Asp290Asn)	ATOH1 (D290N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331318	NM_005172.2(ATOH1):c.971A>G (p.Gln324Arg)	ATOH1 (Q324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813817	NM_005172.2(ATOH1):c.1030del (p.His344fs)	ATOH1 (H344fs)	Deletion (frameshift variant)	Dominant progressive sensorineural hearing loss	GPathogenic
Select item 2468644	NM_005172.2(ATOH1):c.1049C>T (p.Ser350Leu)	ATOH1 (S350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1341210	GRCh37/hg19 4q22.2-22.3(chr4:94684885-95389684)x3	ATOH1, GRID2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 562945	GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1	CCSER1, UNC5C +11 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 68