HELB[gene] - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +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 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +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)	Inborn genetic diseases	GUncertain significance
Select item 2594612	NM_001370285.1(HELB):c.302G>A (p.Ser101Asn)	HELB (S101N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552624	NM_001370285.1(HELB):c.309A>T (p.Gln103His)	HELB (Q103H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621973	NM_001370285.1(HELB):c.329C>T (p.Pro110Leu)	HELB (P110L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234552	NM_001370285.1(HELB):c.413G>A (p.Ser138Asn)	HELB (S138N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481297	NM_001370285.1(HELB):c.442G>C (p.Val148Leu)	HELB (V148L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595061	NM_001370285.1(HELB):c.467A>G (p.Asn156Ser)	HELB (N156S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329472	NM_001370285.1(HELB):c.512A>C (p.Lys171Thr)	HELB (K171T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397589	NM_001370285.1(HELB):c.644C>T (p.Pro215Leu)	HELB (P215L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365883	NM_001370285.1(HELB):c.680G>A (p.Arg227Gln)	HELB (R227Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389634	NM_001370285.1(HELB):c.701G>C (p.Gly234Ala)	HELB (G234A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309000	NM_001370285.1(HELB):c.703T>A (p.Ser235Thr)	HELB (S235T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294009	NM_001370285.1(HELB):c.704C>T (p.Ser235Leu)	HELB (S235L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382023	NM_001370285.1(HELB):c.734A>G (p.Glu245Gly)	HELB (E245G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517592	NM_001370285.1(HELB):c.755C>T (p.Pro252Leu)	HELB (P252L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2340273	NM_001370285.1(HELB):c.1141G>A (p.Asp381Asn)	HELB (D381N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380993	NM_001370285.1(HELB):c.1154T>C (p.Val385Ala)	HELB (V385A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331176	NM_001370285.1(HELB):c.1222G>C (p.Asp408His)	HELB (D408H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390486	NM_001370285.1(HELB):c.1366C>T (p.Arg456Trp)	HELB (R456W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590074	NM_001370285.1(HELB):c.1435T>G (p.Cys479Gly)	HELB (C479G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2395260	NM_001370285.1(HELB):c.1783G>A (p.Val595Ile)	HELB (V595I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599995	NM_001370285.1(HELB):c.1826A>G (p.Glu609Gly)	HELB (E609G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588814	NM_001370285.1(HELB):c.1892G>A (p.Gly631Asp)	HELB (G631D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2526002	NM_001370285.1(HELB):c.1985T>C (p.Val662Ala)	HELB (V662A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347193	NM_001370285.1(HELB):c.1987G>A (p.Asp663Asn)	HELB (D663N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591127	NM_001370285.1(HELB):c.1991A>G (p.Asn664Ser)	HELB (N664S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252120	NM_001370285.1(HELB):c.2086A>T (p.Thr696Ser)	HELB (T696S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600930	NM_001370285.1(HELB):c.2260G>A (p.Asp754Asn)	HELB (D754N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520740	NM_001370285.1(HELB):c.2282C>T (p.Thr761Ile)	HELB (T761I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408825	NM_001370285.1(HELB):c.2369A>G (p.Asp790Gly)	HELB (D790G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569649	NM_001370285.1(HELB):c.2444C>T (p.Thr815Met)	HELB (T815M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610481	NM_001370285.1(HELB):c.2471G>A (p.Arg824His)	HELB (R824H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2335009	NM_001370285.1(HELB):c.2534C>G (p.Thr845Ser)	HELB (T845S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589734	NM_001370285.1(HELB):c.2758C>T (p.Arg920Cys)	HELB (R920C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229912	NM_001370285.1(HELB):c.2759G>A (p.Arg920His)	HELB (R920H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383035	NM_001370285.1(HELB):c.2777T>C (p.Ile926Thr)	HELB (I926T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312849	NM_001370285.1(HELB):c.2932C>A (p.Pro978Thr)	HELB (P978T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469830	NM_001370285.1(HELB):c.2942C>T (p.Pro981Leu)	HELB (P981L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2608738	NM_001370285.1(HELB):c.3173C>G (p.Ser1058Cys)	HELB (S1058C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409894	NM_001370285.1(HELB):c.3200A>G (p.Asn1067Ser)	HELB (N1067S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298223	NM_001370285.1(HELB):c.3223C>G (p.Pro1075Ala)	HELB (P1075A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410931	NM_001370285.1(HELB):c.3244A>G (p.Thr1082Ala)	HELB (T1082A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469608	NM_001370285.1(HELB):c.3245C>T (p.Thr1082Ile)	HELB (T1082I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525171	NM_001370285.1(HELB):c.3260C>T (p.Thr1087Ile)	HELB (T1087I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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	LYZ, MDM1 +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)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66