HELLS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 145386	GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1	ACSM6, CYP2C18 +32 more	Copy number loss	See cases	GUncertain significance
Select item 153831	GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3	ACSM6, CYP2C18 +45 more	Copy number gain	See cases	GUncertain significance
Select item 148908	GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3	ACSM6, CYP2C18 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1949675	NM_018063.5(HELLS):c.1A>T (p.Met1Leu)	HELLS (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 716400	NM_018063.5(HELLS):c.2T>C (p.Met1Thr)	HELLS (M1T)	Single nucleotide variant (missense variant +3 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more	GBenign/Likely benign
Select item 1491475	NM_018063.5(HELLS):c.13C>T (p.Arg5Trp)	HELLS (R5W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1480021	NM_018063.5(HELLS):c.14G>A (p.Arg5Gln)	HELLS (R5Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1664882	NM_018063.5(HELLS):c.18C>T (p.Pro6=)	HELLS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1716408	NM_018063.5(HELLS):c.19G>A (p.Ala7Thr)	HELLS (A7T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1485723	NM_018063.5(HELLS):c.19G>T (p.Ala7Ser)	HELLS (A7S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2764512	NM_018063.5(HELLS):c.22G>A (p.Gly8Ser)	HELLS (G8S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1987881	NM_018063.5(HELLS):c.25A>C (p.Ser9Arg)	HELLS (S9R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1371458	NM_018063.5(HELLS):c.31G>C (p.Gly11Arg)	HELLS (G11R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1016495	NM_018063.5(HELLS):c.31G>T (p.Gly11Cys)	HELLS (G11C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1668990	NM_018063.5(HELLS):c.31+9G>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937937	NM_018063.5(HELLS):c.31+10G>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166855	NM_018063.5(HELLS):c.31+20T>C	HELLS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1634709	NM_018063.5(HELLS):c.32-20A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692895	NM_018063.5(HELLS):c.32-12C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187781	NM_018063.5(HELLS):c.32-9C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970681	NM_018063.5(HELLS):c.32-8C>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1144246	NM_018063.5(HELLS):c.33C>A (p.Gly11=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1696353	NM_018063.5(HELLS):c.41C>A (p.Ala14Asp)	HELLS (A14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1373113	NM_018063.5(HELLS):c.46G>C (p.Ala16Pro)	HELLS (A16P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267925	NM_018063.5(HELLS):c.49A>G (p.Met17Val)	HELLS (M17V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1599252	NM_018063.5(HELLS):c.91C>T (p.Leu31=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2898557	NM_018063.5(HELLS):c.96A>G (p.Glu32=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2853899	NM_018063.5(HELLS):c.112G>C (p.Glu38Gln)	HELLS (E22Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2173515	NM_018063.5(HELLS):c.116C>G (p.Ala39Gly)	HELLS (A39G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2110771	NM_018063.5(HELLS):c.116C>T (p.Ala39Val)	HELLS (A23V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941228	NM_018063.5(HELLS):c.122G>C (p.Gly41Ala)	HELLS (G25A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2344393	NM_018063.5(HELLS):c.134A>C (p.Glu45Ala)	HELLS (E29A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1371614	NM_018063.5(HELLS):c.136C>T (p.Arg46Trp)	HELLS (R46W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903440	NM_018063.5(HELLS):c.150A>G (p.Glu50=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779935	NM_018063.5(HELLS):c.153+10G>T	HELLS	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more	GBenign
Select item 1567979	NM_018063.5(HELLS):c.153+16G>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099900	NM_018063.5(HELLS):c.154-12C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586082	NM_018063.5(HELLS):c.157C>T (p.Arg53Cys)	HELLS (R37C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1449653	NM_018063.5(HELLS):c.158G>A (p.Arg53His)	HELLS (R37H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092849	NM_018063.5(HELLS):c.161T>C (p.Met54Thr)	HELLS (M54T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407456	NM_018063.5(HELLS):c.179C>T (p.Ser60Leu)	HELLS (S60L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972848	NM_018063.5(HELLS):c.180G>T (p.Ser60=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1444544	NM_018063.5(HELLS):c.196C>T (p.Arg66Cys)	HELLS (R50C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2173084	NM_018063.5(HELLS):c.197G>A (p.Arg66His)	HELLS (R50H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876948	NM_018063.5(HELLS):c.204T>G (p.Leu68=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1168418	NM_018063.5(HELLS):c.231A>C (p.Ile77=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2616776	NM_018063.5(HELLS):c.251C>G (p.Thr84Arg)	HELLS (T68R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2076972	NM_018063.5(HELLS):c.252G>A (p.Thr84=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 776529	NM_018063.5(HELLS):c.270A>G (p.Gln90=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 736562	NM_018063.5(HELLS):c.276+10T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771342	NM_018063.5(HELLS):c.276+18A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1552987	NM_018063.5(HELLS):c.276+19C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914834	NM_018063.5(HELLS):c.277-20A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610353	NM_018063.5(HELLS):c.277-13A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756749	NM_018063.5(HELLS):c.277-11T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1045588	NM_018063.5(HELLS):c.277-3C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1625976	NM_018063.5(HELLS):c.279A>G (p.Glu93=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793435	NM_018063.5(HELLS):c.298T>C (p.Leu100=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834655	NM_018063.5(HELLS):c.301G>T (p.Glu101Ter)	HELLS (E85* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2813119	NM_018063.5(HELLS):c.306A>G (p.Arg102=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1474369	NM_018063.5(HELLS):c.329A>G (p.Lys110Arg)	HELLS (K94R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1575767	NM_018063.5(HELLS):c.333+10C>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994931	NM_018063.5(HELLS):c.333+15C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793061	NM_018063.5(HELLS):c.333+16G>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667867	NM_018063.5(HELLS):c.333+20T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165898	NM_018063.5(HELLS):c.334-19C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1619530	NM_018063.5(HELLS):c.334-16A>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539110	NM_018063.5(HELLS):c.334-6T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998519	NM_018063.5(HELLS):c.334-5T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 790454	NM_018063.5(HELLS):c.334G>A (p.Gly112Ser)	HELLS (G112S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1372484	NM_018063.5(HELLS):c.346A>G (p.Ile116Val)	HELLS (I100V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355641	NM_018063.5(HELLS):c.350A>G (p.Asp117Gly)	HELLS (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3105077	NM_018063.5(HELLS):c.353C>G (p.Ala118Gly)	HELLS (Q2E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1032786	NM_018063.5(HELLS):c.360A>G (p.Glu120=)	HELLS (K4R)	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 225524	NM_018063.5(HELLS):c.370+2T>A	HELLS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1553128	NM_018063.5(HELLS):c.370+8T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606077	NM_018063.5(HELLS):c.370+9C>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649204	NM_018063.5(HELLS):c.370+10C>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654176	NM_018063.5(HELLS):c.370+19G>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783506	NM_018063.5(HELLS):c.371-14dup	HELLS	Duplication (intron variant)	not provided	GBenign
Select item 2699551	NM_018063.5(HELLS):c.371-17A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641350	NM_018063.5(HELLS):c.371-14A>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560107	NM_018063.5(HELLS):c.371-5dup	HELLS	Duplication (intron variant)	not provided	GBenign
Select item 2867727	NM_018063.5(HELLS):c.371-13T>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926972	NM_018063.5(HELLS):c.371-5del	HELLS	Deletion (intron variant)	not provided	GBenign
Select item 2965086	NM_018063.5(HELLS):c.371-12T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 225527	NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter)	HELLS (K4* +2 more)	Duplication (nonsense +3 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	GPathogenic
Select item 1363170	NM_018063.5(HELLS):c.374T>C (p.Met125Thr)	HELLS (M125T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 943584	NM_018063.5(HELLS):c.385del (p.Arg129fs)	HELLS (R129fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1433886	NM_018063.5(HELLS):c.410A>G (p.Asn137Ser)	HELLS (N13S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1470152	NM_018063.5(HELLS):c.411T>G (p.Asn137Lys)	HELLS (N137K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1965887	NM_018063.5(HELLS):c.436-18G>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883433	NM_018063.5(HELLS):c.438A>G (p.Glu146=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914863	NM_018063.5(HELLS):c.448G>A (p.Val150Met)	HELLS (V26M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682278	NM_018063.5(HELLS):c.453T>A (p.Ala151=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1533600	NM_018063.5(HELLS):c.456A>G (p.Lys152=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1471236	NM_018063.5(HELLS):c.465_467del (p.Lys156del)	HELLS (K140del +3 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance

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