HELB[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 2613691	NM_001370285.1(HELB):c.17C>T (p.Pro6Leu)	HELB (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283944	NM_001370285.1(HELB):c.191C>A (p.Ser64Tyr)	HELB (S64Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105065	NM_001370285.1(HELB):c.242C>T (p.Pro81Leu)	HELB (P81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594612	NM_001370285.1(HELB):c.302G>A (p.Ser101Asn)	HELB (S101N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552624	NM_001370285.1(HELB):c.309A>T (p.Gln103His)	HELB (Q103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621973	NM_001370285.1(HELB):c.329C>T (p.Pro110Leu)	HELB (P110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283937	NM_001370285.1(HELB):c.353T>C (p.Met118Thr)	HELB (M118T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105068	NM_001370285.1(HELB):c.378C>G (p.Ile126Met)	HELB (I126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234552	NM_001370285.1(HELB):c.413G>A (p.Ser138Asn)	HELB (S138N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481297	NM_001370285.1(HELB):c.442G>C (p.Val148Leu)	HELB (V148L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105069	NM_001370285.1(HELB):c.450G>C (p.Glu150Asp)	HELB (E150D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595061	NM_001370285.1(HELB):c.467A>G (p.Asn156Ser)	HELB (N156S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283946	NM_001370285.1(HELB):c.487A>G (p.Arg163Gly)	HELB (R163G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329472	NM_001370285.1(HELB):c.512A>C (p.Lys171Thr)	HELB (K171T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283941	NM_001370285.1(HELB):c.621T>G (p.Asn207Lys)	HELB (N207K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397589	NM_001370285.1(HELB):c.644C>T (p.Pro215Leu)	HELB (P215L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365883	NM_001370285.1(HELB):c.680G>A (p.Arg227Gln)	HELB (R227Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283940	NM_001370285.1(HELB):c.689A>G (p.Lys230Arg)	HELB (K230R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389634	NM_001370285.1(HELB):c.701G>C (p.Gly234Ala)	HELB (G234A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309000	NM_001370285.1(HELB):c.703T>A (p.Ser235Thr)	HELB (S235T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294009	NM_001370285.1(HELB):c.704C>T (p.Ser235Leu)	HELB (S235L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382023	NM_001370285.1(HELB):c.734A>G (p.Glu245Gly)	HELB (E245G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517592	NM_001370285.1(HELB):c.755C>T (p.Pro252Leu)	HELB (P252L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785417	NM_001370285.1(HELB):c.799C>T (p.Leu267Phe)	HELB (L267F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3105070	NM_001370285.1(HELB):c.937G>A (p.Val313Ile)	HELB (V313I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340273	NM_001370285.1(HELB):c.1141G>A (p.Asp381Asn)	HELB (D381N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105053	NM_001370285.1(HELB):c.1147G>A (p.Glu383Lys)	HELB (E383K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380993	NM_001370285.1(HELB):c.1154T>C (p.Val385Ala)	HELB (V385A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331176	NM_001370285.1(HELB):c.1222G>C (p.Asp408His)	HELB (D408H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105054	NM_001370285.1(HELB):c.1267G>A (p.Asp423Asn)	HELB (D423N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390486	NM_001370285.1(HELB):c.1366C>T (p.Arg456Trp)	HELB (R456W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590074	NM_001370285.1(HELB):c.1435T>G (p.Cys479Gly)	HELB (C479G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105055	NM_001370285.1(HELB):c.1459C>T (p.Arg487Cys)	HELB (R487C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775311	NM_001370285.1(HELB):c.1460G>A (p.Arg487His)	HELB (R487H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3105056	NM_001370285.1(HELB):c.1507G>T (p.Ala503Ser)	HELB (A503S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105057	NM_001370285.1(HELB):c.1576C>A (p.Leu526Ile)	HELB (L526I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105058	NM_001370285.1(HELB):c.1612G>A (p.Ala538Thr)	HELB (A538T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283939	NM_001370285.1(HELB):c.1748C>T (p.Ser583Leu)	HELB (S583L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283938	NM_001370285.1(HELB):c.1774G>A (p.Gly592Arg)	HELB (G592R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395260	NM_001370285.1(HELB):c.1783G>A (p.Val595Ile)	HELB (V595I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599995	NM_001370285.1(HELB):c.1826A>G (p.Glu609Gly)	HELB (E609G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588814	NM_001370285.1(HELB):c.1892G>A (p.Gly631Asp)	HELB (G631D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782563	NM_001370285.1(HELB):c.1942A>G (p.Ile648Val)	HELB (I648V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3105059	NM_001370285.1(HELB):c.1978C>T (p.Leu660Phe)	HELB (L660F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526002	NM_001370285.1(HELB):c.1985T>C (p.Val662Ala)	HELB (V662A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347193	NM_001370285.1(HELB):c.1987G>A (p.Asp663Asn)	HELB (D663N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591127	NM_001370285.1(HELB):c.1991A>G (p.Asn664Ser)	HELB (N664S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105060	NM_001370285.1(HELB):c.2086A>G (p.Thr696Ala)	HELB (T696A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252120	NM_001370285.1(HELB):c.2086A>T (p.Thr696Ser)	HELB (T696S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105061	NM_001370285.1(HELB):c.2092A>G (p.Ile698Val)	HELB (I698V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283942	NM_001370285.1(HELB):c.2135C>A (p.Ser712Tyr)	HELB (S712Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283945	NM_001370285.1(HELB):c.2144A>C (p.Asn715Thr)	HELB (N715T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600930	NM_001370285.1(HELB):c.2260G>A (p.Asp754Asn)	HELB (D754N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105062	NM_001370285.1(HELB):c.2267G>A (p.Cys756Tyr)	HELB (C756Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520740	NM_001370285.1(HELB):c.2282C>T (p.Thr761Ile)	HELB (T761I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105063	NM_001370285.1(HELB):c.2342G>A (p.Cys781Tyr)	HELB (C781Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408825	NM_001370285.1(HELB):c.2369A>G (p.Asp790Gly)	HELB (D790G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569649	NM_001370285.1(HELB):c.2444C>T (p.Thr815Met)	HELB (T815M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610481	NM_001370285.1(HELB):c.2471G>A (p.Arg824His)	HELB (R824H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2335009	NM_001370285.1(HELB):c.2534C>G (p.Thr845Ser)	HELB (T845S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105066	NM_001370285.1(HELB):c.2716C>T (p.Arg906Cys)	HELB (R906C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283935	NM_001370285.1(HELB):c.2717G>A (p.Arg906His)	HELB (R906H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589734	NM_001370285.1(HELB):c.2758C>T (p.Arg920Cys)	HELB (R920C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229912	NM_001370285.1(HELB):c.2759G>A (p.Arg920His)	HELB (R920H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383035	NM_001370285.1(HELB):c.2777T>C (p.Ile926Thr)	HELB (I926T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105067	NM_001370285.1(HELB):c.2779G>A (p.Ala927Thr)	HELB (A927T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283936	NM_001370285.1(HELB):c.2797C>T (p.Arg933Trp)	HELB (R933W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312849	NM_001370285.1(HELB):c.2932C>A (p.Pro978Thr)	HELB (P978T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469830	NM_001370285.1(HELB):c.2942C>T (p.Pro981Leu)	HELB (P981L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768566	NM_001370285.1(HELB):c.3003C>T (p.Ser1001=)	HELB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2456379	NM_001370285.1(HELB):c.3014C>T (p.Ser1005Leu)	HELB (S1005L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790665	NM_001370285.1(HELB):c.3038T>C (p.Phe1013Ser)	HELB (F1013S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2328203	NM_001370285.1(HELB):c.3051G>T (p.Trp1017Cys)	HELB (W1017C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608738	NM_001370285.1(HELB):c.3173C>G (p.Ser1058Cys)	HELB (S1058C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409894	NM_001370285.1(HELB):c.3200A>G (p.Asn1067Ser)	HELB (N1067S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298223	NM_001370285.1(HELB):c.3223C>G (p.Pro1075Ala)	HELB (P1075A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410931	NM_001370285.1(HELB):c.3244A>G (p.Thr1082Ala)	HELB (T1082A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2469608	NM_001370285.1(HELB):c.3245C>T (p.Thr1082Ile)	HELB (T1082I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525171	NM_001370285.1(HELB):c.3260C>T (p.Thr1087Ile)	HELB (T1087I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684676	GRCh37/hg19 12q14.3(chr12:66460527-67175455)x3	GRIP1, HELB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1808410	GRCh37/hg19 12q14.3(chr12:66649649-66924363)x3	GRIP1, HELB	Copy number gain	not provided	GUncertain significance
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688292	GRCh37/hg19 12q14.3(chr12:66285627-66718973)x3	HELB, HMGA2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686488	GRCh37/hg19 12q14.3(chr12:66719794-67144575)x3	GRIP1, HELB	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 96