ClinVar for Gene (Select 84667) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284140	NM_001165967.2(HES7):c.521C>A (p.Pro174His)	HES7, LOC130060203 (P169H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284138	NM_001165967.2(HES7):c.578G>A (p.Gly193Asp)	HES7, LOC130060203 (G188D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284137	NM_001165967.2(HES7):c.425A>G (p.Asp142Gly)	HES7, LOC130060203 (D142G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284136	NM_001165967.2(HES7):c.503C>T (p.Pro168Leu)	HES7, LOC130060203 (P168L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3105519	NM_001165967.2(HES7):c.577G>A (p.Gly193Ser)	HES7, LOC130060203 (G188S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105518	NM_001165967.2(HES7):c.428C>G (p.Pro143Arg)	HES7, LOC130060203 (P138R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3017317	NM_001165967.2(HES7):c.102G>A (p.Glu34=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005455	NM_001165967.2(HES7):c.139-12T>A	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996518	NM_001165967.2(HES7):c.138+20C>T	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963392	NM_001165967.2(HES7):c.681A>T (p.Arg227Ser)	HES7, LOC130060203 (R222S +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 2866214	NM_001165967.2(HES7):c.184G>A (p.Ala62Thr)	HES7 (A62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815086	NM_001165967.2(HES7):c.12G>C (p.Arg4=)	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 2779452	NM_001165967.2(HES7):c.396C>T (p.Arg132=)	HES7	Single nucleotide variant (synonymous 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 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	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 2594639	NM_001165967.2(HES7):c.521C>T (p.Pro174Leu)	HES7, LOC130060203 (P169L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
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 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422546	NC_000017.10:g.(?_7906366)_(8027402_?)dup	ALOX12B, ALOX15B +7 more	Duplication	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
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 2247921	NM_001165967.2(HES7):c.193T>C (p.Tyr65His)	HES7 (Y65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228035	NM_001165967.2(HES7):c.515G>C (p.Gly172Ala)	HES7, LOC130060203 (G172A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190396	NM_001165967.2(HES7):c.462C>T (p.Pro154=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2180334	NM_001165967.2(HES7):c.460C>G (p.Pro154Ala)	HES7, LOC130060203 (P149A +1 more)	Single nucleotide variant (missense variant)	not provided	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 2120554	NM_001165967.2(HES7):c.226+9C>T	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2092496	NM_001165967.2(HES7):c.583C>G (p.Pro195Ala)	HES7, LOC130060203 (P195A +1 more)	Single nucleotide variant (missense variant)	not provided	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 2078898	NM_001165967.2(HES7):c.178G>A (p.Glu60Lys)	HES7 (E60K)	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 2009145	NM_001165967.2(HES7):c.129C>G (p.Thr43=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984931	NM_001165967.2(HES7):c.466G>T (p.Ala156Ser)	HES7, LOC130060203 (A151S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984066	NM_001165967.2(HES7):c.424G>T (p.Asp142Tyr)	HES7, LOC130060203 (D142Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966009	NM_001165967.2(HES7):c.226+17G>A	HES7	Single nucleotide variant (intron 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 1945841	NM_001165967.2(HES7):c.561G>C (p.Pro187=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933491	NM_001165967.2(HES7):c.557C>A (p.Ser186Tyr)	HES7, LOC130060203 (S186Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927702	NM_001165967.2(HES7):c.138+13G>C	HES7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1925903	NM_001165967.2(HES7):c.138+6T>G	HES7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 1910656	NM_001165967.2(HES7):c.605T>C (p.Leu202Pro)	HES7, LOC130060203 (L202P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1906852	NM_001165967.2(HES7):c.378G>T (p.Ala126=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	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 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 1684630	NC_000017.11:g.8117792_8126946del	ALOXE3, HES7 +14 more	Deletion (genic upstream transcript variant)	Thoracic kyphoscoliosis +29 more	GPathogenic
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 1669617	NM_001165967.2(HES7):c.465C>T (p.Ala155=)	HES7, LOC130060203	Single nucleotide variant (synonymous 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 1647619	NM_001165967.2(HES7):c.246T>A (p.Val82=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646696	NM_001165967.2(HES7):c.525C>T (p.Ser175=)	HES7, LOC130060203	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 1611095	NM_001165967.2(HES7):c.255C>T (p.Ser85=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607264	NM_001165967.2(HES7):c.615A>G (p.Pro205=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584897	NM_001165967.2(HES7):c.348C>T (p.Ser116=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558876	NM_001165967.2(HES7):c.276G>T (p.Ala92=)	HES7	Single nucleotide variant (synonymous variant)	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 1534314	NM_001165967.2(HES7):c.621G>A (p.Pro207=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532977	NM_001165967.2(HES7):c.579C>A (p.Gly193=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1518644	NM_001165967.2(HES7):c.551T>C (p.Leu184Pro)	HES7, LOC130060203 (L184P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516945	NM_001165967.2(HES7):c.487C>G (p.Leu163Val)	HES7, LOC130060203 (L163V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1515453	NM_001165967.2(HES7):c.682C>T (p.Pro228Ser)	HES7, LOC130060203 (P228S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502043	NM_001165967.2(HES7):c.637G>C (p.Gly213Arg)	HES7, LOC130060203 (G213R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501145	NM_001165967.2(HES7):c.596C>T (p.Thr199Ile)	HES7, LOC130060203 (T194I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1482334	NM_001165967.2(HES7):c.184G>T (p.Ala62Ser)	HES7 (A62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447976	NC_000017.10:g.(?_8017782)_(8027402_?)del	ALOXE3, HES7 +4 more	Deletion	not provided	GUncertain significance
Select item 1447965	NM_001165967.2(HES7):c.602TGC[3] (p.Leu202dup)	HES7, LOC130060203	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1445982	NM_001165967.2(HES7):c.438_461dup (p.Pro148_Ala155dup)	HES7, LOC130060203	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1445685	NM_001165967.2(HES7):c.614C>T (p.Pro205Leu)	HES7, LOC130060203 (P200L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432572	NM_001165967.2(HES7):c.417G>T (p.Lys139Asn)	HES7, LOC130060203 (K134N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1431967	NM_001165967.2(HES7):c.511C>A (p.Gln171Lys)	HES7, LOC130060203 (Q166K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421777	NM_001165967.2(HES7):c.226+3A>G	HES7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1403857	NM_001165967.2(HES7):c.225G>T (p.Pro75=)	HES7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	TRR-TCT2-1, VAMP2 +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
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 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 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 1362098	NM_001165967.2(HES7):c.566C>T (p.Ala189Val)	HES7, LOC130060203 (A184V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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