"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATOH1"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3049113	NM_005172.2(ATOH1):c.150G>A (p.Pro50=)	ATOH1	Single nucleotide variant (synonymous variant)	ATOH1-related disorder	GBenign
Select item 2218234	NM_005172.2(ATOH1):c.283C>T (p.Pro95Ser)	ATOH1 (P95S)	Single nucleotide variant (missense variant)	ATOH1-related disorder +1 more	GConflicting classifications of pathogenicity
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 2631847	NM_005172.2(ATOH1):c.442C>T (p.Pro148Ser)	ATOH1 (P148S)	Single nucleotide variant (missense variant)	ATOH1-related disorder	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 3036732	NM_005172.2(ATOH1):c.674C>G (p.Pro225Arg)	ATOH1 (P225R)	Single nucleotide variant (missense variant)	ATOH1-related disorder	GLikely benign
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 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 3039537	NM_005172.2(ATOH1):c.846G>C (p.Ala282=)	ATOH1	Single nucleotide variant (synonymous variant)	ATOH1-related disorder	GLikely benign