Related gene-specific medical variations for Gene (Select 220202) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614907	NM_145178.4(ATOH7):c.79G>A (p.Gly27Ser)	ATOH7, LOC130003943 (G27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2112595	NM_145178.4(ATOH7):c.28C>T (p.Pro10Ser)	ATOH7, LOC130003943 (P10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088238	NM_145178.4(ATOH7):c.53C>G (p.Pro18Arg)	ATOH7, LOC130003943 (P18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085019	NM_145178.4(ATOH7):c.59C>G (p.Ala20Gly)	ATOH7, LOC130003943 (A20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052977	NM_145178.4(ATOH7):c.33G>A (p.Ala11=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044902	NM_145178.4(ATOH7):c.35G>A (p.Gly12Glu)	ATOH7, LOC130003943 (G12E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970337	NM_145178.4(ATOH7):c.24C>T (p.Gly8=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942010	NM_145178.4(ATOH7):c.62_63delinsTT (p.Gly21Val)	ATOH7, LOC130003943 (G21V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1924592	NM_145178.4(ATOH7):c.68C>A (p.Thr23Asn)	ATOH7, LOC130003943 (T23N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715539	NM_145178.4(ATOH7):c.28C>G (p.Pro10Ala)	ATOH7, LOC130003943 (P10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715464	NM_145178.4(ATOH7):c.74G>A (p.Cys25Tyr)	ATOH7, LOC130003943 (C25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660574	NM_145178.4(ATOH7):c.78G>A (p.Ala26=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604426	NM_145178.4(ATOH7):c.48A>T (p.Ala16=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508708	NM_145178.4(ATOH7):c.22G>A (p.Gly8Ser)	ATOH7, LOC130003943 (G8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504647	NM_145178.4(ATOH7):c.70G>T (p.Glu24Ter)	ATOH7, LOC130003943 (E24*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1496341	NM_145178.4(ATOH7):c.58G>A (p.Ala20Thr)	ATOH7, LOC130003943 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493196	NM_145178.4(ATOH7):c.88G>A (p.Ala30Thr)	ATOH7, LOC130003943 (A30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449737	NM_145178.4(ATOH7):c.26del (p.Pro9fs)	ATOH7, LOC130003943 (P9fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1418004	NM_145178.4(ATOH7):c.53C>A (p.Pro18Gln)	ATOH7, LOC130003943 (P18Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396630	NM_145178.4(ATOH7):c.26C>T (p.Pro9Leu)	ATOH7, LOC130003943 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352319	NM_145178.4(ATOH7):c.22G>T (p.Gly8Cys)	ATOH7, LOC130003943 (G8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1157663	NM_145178.4(ATOH7):c.69C>T (p.Thr23=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123723	NM_145178.4(ATOH7):c.27G>T (p.Pro9=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080757	NM_145178.4(ATOH7):c.48A>G (p.Ala16=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1000291	NM_145178.4(ATOH7):c.83C>G (p.Thr28Arg)	ATOH7, LOC130003943 (T28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971608	NM_145178.4(ATOH7):c.29C>G (p.Pro10Arg)	ATOH7, LOC130003943 (P10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 968891	NM_145178.4(ATOH7):c.41G>A (p.Arg14His)	ATOH7, LOC130003943 (R14H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953540	NM_145178.4(ATOH7):c.43G>T (p.Val15Phe)	ATOH7, LOC130003943 (V15F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 950797	NM_145178.4(ATOH7):c.64_81del (p.Gly22_Gly27del)	ATOH7, LOC130003943	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 851114	NM_145178.4(ATOH7):c.64_81dup (p.Gly22_Gly27dup)	ATOH7, LOC130003943	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 144066	NM_145178.4(ATOH7):c.53del (p.Pro18fs)	ATOH7, LOC130003943 (P18fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 30807	NC_000010.11:g.68247368_68253890del	ATOH7, LOC132089834	Deletion	Persistent hyperplastic primary vitreous, autosomal recessive	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32