HES7[gene] and "single gene"[properties] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91404	NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)	HES7 (R132fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1495636	NM_001165967.2(HES7):c.409C>G (p.Arg137Gly)	HES7 (R137G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306692	NM_001165967.2(HES7):c.406C>T (p.Pro136Ser)	HES7 (P136S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1912244	NM_001165967.2(HES7):c.403C>T (p.Pro135Ser)	HES7 (P135S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262089	NM_001165967.2(HES7):c.402A>G (p.Lys134=)	HES7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 859764	NM_001165967.2(HES7):c.398C>A (p.Pro133His)	HES7 (P128H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779452	NM_001165967.2(HES7):c.396C>T (p.Arg132=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739141	NM_001165967.2(HES7):c.395G>T (p.Arg132Leu)	HES7 (R127L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1515458	NM_001165967.2(HES7):c.394C>T (p.Arg132Cys)	HES7 (R127C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496327	NM_001165967.2(HES7):c.389A>G (p.Tyr130Cys)	HES7 (Y125C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1926469	NM_001165967.2(HES7):c.389A>C (p.Tyr130Ser)	HES7 (Y125S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894310	NM_001165967.2(HES7):c.387C>T (p.Gly129=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909608	NM_001165967.2(HES7):c.383A>G (p.His128Arg)	HES7 (H123R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369939	NM_001165967.2(HES7):c.380T>G (p.Leu127Arg)	HES7 (L122R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906852	NM_001165967.2(HES7):c.378G>T (p.Ala126=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949297	NM_001165967.2(HES7):c.377C>G (p.Ala126Gly)	HES7 (A121G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3105517	NM_001165967.2(HES7):c.358C>G (p.Arg120Gly)	HES7 (R115G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371369	NM_001165967.2(HES7):c.350C>A (p.Pro117Gln)	HES7 (P117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584897	NM_001165967.2(HES7):c.348C>T (p.Ser116=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371504	NM_001165967.2(HES7):c.326C>A (p.Ala109Glu)	HES7 (A104E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1097477	NM_001165967.2(HES7):c.306C>A (p.Arg102=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417518	NM_001165967.2(HES7):c.296C>T (p.Ser99Phe)	HES7 (S99F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1558876	NM_001165967.2(HES7):c.276G>T (p.Ala92=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1611095	NM_001165967.2(HES7):c.255C>T (p.Ser85=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647619	NM_001165967.2(HES7):c.246T>A (p.Val82=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799863	NM_001165967.2(HES7):c.237T>C (p.Ala79=)	HES7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1538458	NM_001165967.2(HES7):c.227-3C>T	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966009	NM_001165967.2(HES7):c.226+17G>A	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120554	NM_001165967.2(HES7):c.226+9C>T	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1421777	NM_001165967.2(HES7):c.226+3A>G	HES7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1403857	NM_001165967.2(HES7):c.225G>T (p.Pro75=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2604419	NM_001165967.2(HES7):c.224C>G (p.Pro75Arg)	HES7 (P75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2079075	NM_001165967.2(HES7):c.210C>G (p.Ser70Arg)	HES7 (S70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247921	NM_001165967.2(HES7):c.193T>C (p.Tyr65His)	HES7 (Y65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2866214	NM_001165967.2(HES7):c.184G>A (p.Ala62Thr)	HES7 (A62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482334	NM_001165967.2(HES7):c.184G>T (p.Ala62Ser)	HES7 (A62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078898	NM_001165967.2(HES7):c.178G>A (p.Glu60Lys)	HES7 (E60K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262088	NM_001165967.2(HES7):c.175T>C (p.Leu59=)	HES7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1705721	NM_001165967.2(HES7):c.173T>G (p.Ile58Arg)	HES7 (I58R)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive +1 more	GUncertain significance
Select item 30698	NM_001165967.2(HES7):c.172A>G (p.Ile58Val)	HES7 (I58V)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GPathogenic
Select item 718156	NM_001165967.2(HES7):c.168G>C (p.Ala56=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312918	NM_001165967.2(HES7):c.141C>A (p.Asn47Lys)	HES7 (N47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005455	NM_001165967.2(HES7):c.139-12T>A	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244321	NM_001165967.2(HES7):c.138+271G>C	HES7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2996518	NM_001165967.2(HES7):c.138+20C>T	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664877	NM_001165967.2(HES7):c.138+18C>T	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694868	NM_001165967.2(HES7):c.138+15T>C	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927702	NM_001165967.2(HES7):c.138+13G>C	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 286979	NM_001165967.2(HES7):c.138+9C>T	HES7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1925903	NM_001165967.2(HES7):c.138+6T>G	HES7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2009145	NM_001165967.2(HES7):c.129C>G (p.Thr43=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 262087	NM_001165967.2(HES7):c.123G>A (p.Glu41=)	HES7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2182858	NM_001165967.2(HES7):c.119T>C (p.Leu40Pro)	HES7 (L40P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3255516	NM_001165967.2(HES7):c.113T>C (p.Leu38Pro)	HES7 (L38P)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GLikely pathogenic
Select item 3017317	NM_001165967.2(HES7):c.102G>A (p.Glu34=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912430	NM_001165967.2(HES7):c.88C>A (p.Arg30Ser)	HES7 (R30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 559880	NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)	HES7 (N29S)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GLikely pathogenic
Select item 30696	NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)	HES7 (R25W)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GPathogenic
Select item 2112946	NM_001165967.2(HES7):c.56T>C (p.Leu19Pro)	HES7 (L19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719590	NM_001165967.2(HES7):c.55C>G (p.Leu19Val)	HES7 (L19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012915	NM_001165967.2(HES7):c.48C>G (p.Leu16=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004339	NM_001165967.2(HES7):c.43A>T (p.Met15Leu)	HES7 (M15L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2120638	NM_001165967.2(HES7):c.43-3C>T	HES7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1674758	NM_001165967.2(HES7):c.43-7G>A	HES7	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1255190	NM_001165967.2(HES7):c.42+43T>C	HES7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2815086	NM_001165967.2(HES7):c.12G>C (p.Arg4=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629965	NM_001165967.2(HES7):c.10C>A (p.Arg4=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1242485	NC_000017.11:g.8124275G>T	HES7	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1282551	NC_000017.11:g.8124326G>A	HES7	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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Items: 69