HERC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 1221333	NM_003922.4(HERC1):c.*167T>C	HERC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1265635	NM_003922.4(HERC1):c.*24C>G	HERC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2176259	NM_003922.4(HERC1):c.14571C>T (p.Ser4857=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785494	NM_003922.4(HERC1):c.14559C>T (p.Asn4853=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1972336	NM_003922.4(HERC1):c.14551G>A (p.Val4851Met)	HERC1 (V4851M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189023	NM_003922.4(HERC1):c.14543C>T (p.Ser4848Leu)	HERC1 (S4848L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749646	NM_003922.4(HERC1):c.14520C>T (p.Ile4840=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448815	NM_003922.4(HERC1):c.14492G>A (p.Arg4831His)	HERC1 (R4831H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373400	NM_003922.4(HERC1):c.14491C>T (p.Arg4831Cys)	HERC1 (R4831C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985584	NM_003922.4(HERC1):c.14486G>A (p.Arg4829His)	HERC1 (R4829H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2548104	NM_003922.4(HERC1):c.14462C>A (p.Ser4821Tyr)	HERC1 (S4821Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2800903	NM_003922.4(HERC1):c.14427G>A (p.Gln4809=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 758095	NM_003922.4(HERC1):c.14406C>T (p.Tyr4802=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2818943	NM_003922.4(HERC1):c.14401-20del	HERC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1183226	NM_003922.4(HERC1):c.14401-20C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1235379	NM_003922.4(HERC1):c.14401-181C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244404	NM_003922.4(HERC1):c.14401-311T>C	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276914	NM_003922.4(HERC1):c.14400+170G>C	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990291	NM_003922.4(HERC1):c.14400+12A>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958543	NM_003922.4(HERC1):c.14400+8dup	HERC1	Duplication (intron variant)	not provided	GLikely benign
Select item 761549	NM_003922.4(HERC1):c.14400+8A>G	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3347743	NM_003922.4(HERC1):c.14400+1G>A	HERC1	Single nucleotide variant (splice donor variant)	HERC1-related disorder	GUncertain significance
Select item 3364404	NM_003922.4(HERC1):c.14332G>A (p.Gly4778Arg)	HERC1 (G4778R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320891	NM_003922.4(HERC1):c.14330C>T (p.Ser4777Leu)	HERC1 (S4777L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3105326	NM_003922.4(HERC1):c.14312T>A (p.Leu4771His)	HERC1 (L4771H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059803	NM_003922.4(HERC1):c.14307G>T (p.Arg4769=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182265	NM_003922.4(HERC1):c.14297A>G (p.Asn4766Ser)	HERC1 (N4766S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 774495	NM_003922.4(HERC1):c.14280G>A (p.Thr4760=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181151	NM_003922.4(HERC1):c.14277C>A (p.His4759Gln)	HERC1 (H4759Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594295	NM_003922.4(HERC1):c.14244T>C (p.Asp4748=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489130	NM_003922.4(HERC1):c.14201C>T (p.Ser4734Phe)	HERC1 (S4734F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1715421	NM_003922.4(HERC1):c.14189T>C (p.Met4730Thr)	HERC1 (M4730T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738862	NM_003922.4(HERC1):c.14139G>A (p.Pro4713=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339614	NM_003922.4(HERC1):c.14138C>T (p.Pro4713Leu)	HERC1 (P4713L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2610081	NM_003922.4(HERC1):c.14137C>T (p.Pro4713Ser)	HERC1 (P4713S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755682	NM_003922.4(HERC1):c.14100T>C (p.Ala4700=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523696	NM_003922.4(HERC1):c.14095-8G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021255	NM_003922.4(HERC1):c.14095-9C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956965	NM_003922.4(HERC1):c.14095-12T>C	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255172	NM_003922.4(HERC1):c.14094+27A>G	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988168	NM_003922.4(HERC1):c.14094+18G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722104	NM_003922.4(HERC1):c.14094+8G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 817684	NM_003922.4(HERC1):c.14093del (p.Gln4698fs)	HERC1 (Q4698fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3025507	NM_003922.4(HERC1):c.14073A>T (p.Arg4691=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984952	NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro)	HERC1 (R4691P)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GPathogenic
Select item 3364045	NM_003922.4(HERC1):c.14012A>T (p.Asn4671Ile)	HERC1 (N4671I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315861	NM_003922.4(HERC1):c.14012A>G (p.Asn4671Ser)	HERC1 (N4671S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2056876	NM_003922.4(HERC1):c.13990G>C (p.Val4664Leu)	HERC1 (V4664L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888915	NM_003922.4(HERC1):c.13968C>T (p.Gly4656=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724016	NM_003922.4(HERC1):c.13942-4C>G	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973566	NM_003922.4(HERC1):c.13942-12T>G	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989155	NM_003922.4(HERC1):c.13942-17T>C	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211419	NM_003922.4(HERC1):c.13942-114G>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190355	NM_003922.4(HERC1):c.13942-209G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272288	NM_003922.4(HERC1):c.13941+176_13941+179dup	HERC1	Duplication (intron variant)	not provided	GBenign
Select item 1239888	NM_003922.4(HERC1):c.13941+42C>A	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1910789	NM_003922.4(HERC1):c.13941+19A>G	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911967	NM_003922.4(HERC1):c.13941+12C>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2188687	NM_003922.4(HERC1):c.13937A>G (p.His4646Arg)	HERC1 (H4646R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 782595	NM_003922.4(HERC1):c.13923C>T (p.Thr4641=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622397	NM_003922.4(HERC1):c.13910A>G (p.Asp4637Gly)	HERC1 (D4637G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1947937	NM_003922.4(HERC1):c.13904T>C (p.Ile4635Thr)	HERC1 (I4635T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891345	NM_003922.4(HERC1):c.13897C>G (p.Leu4633Val)	HERC1 (L4633V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321116	NM_003922.4(HERC1):c.13892G>A (p.Ser4631Asn)	HERC1 (S4631N)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GUncertain significance
Select item 2332250	NM_003922.4(HERC1):c.13876G>A (p.Val4626Met)	HERC1 (V4626M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782596	NM_003922.4(HERC1):c.13875C>T (p.Tyr4625=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3372941	NM_003922.4(HERC1):c.13860G>C (p.Glu4620Asp)	HERC1 (E4620D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099521	NM_003922.4(HERC1):c.13851C>A (p.Asp4617Glu)	HERC1 (D4617E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065430	NM_003922.4(HERC1):c.13848G>C (p.Glu4616Asp)	HERC1 (E4616D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321007	NM_003922.4(HERC1):c.13843C>A (p.Leu4615Ile)	HERC1 (L4615I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3236645	NM_003922.4(HERC1):c.13815G>A (p.Trp4605Ter)	HERC1 (W4605*)	Single nucleotide variant (nonsense)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GLikely pathogenic
Select item 1336127	NM_003922.4(HERC1):c.13808T>C (p.Leu4603Pro)	HERC1 (L4603P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2013766	NM_003922.4(HERC1):c.13807C>G (p.Leu4603Val)	HERC1 (L4603V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063294	NM_003922.4(HERC1):c.13762G>C (p.Val4588Leu)	HERC1 (V4588L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645427	NM_003922.4(HERC1):c.13725C>T (p.His4575=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718457	NM_003922.4(HERC1):c.13716C>T (p.Leu4572=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1330300	NM_003922.4(HERC1):c.13693C>T (p.Leu4565Phe)	HERC1 (L4565F)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1230162	NM_003922.4(HERC1):c.13689-303G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1641596	NM_003922.4(HERC1):c.13688+11C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320409	NM_003922.4(HERC1):c.13688G>A (p.Arg4563Lys)	HERC1 (R4563K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749164	NM_003922.4(HERC1):c.13683_13684dup (p.Asp4562fs)	HERC1 (D4562fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2037475	NM_003922.4(HERC1):c.13682G>C (p.Arg4561Thr)	HERC1 (R4561T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092955	NM_003922.4(HERC1):c.13677C>T (p.Tyr4559=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178750	NM_003922.4(HERC1):c.13662C>T (p.Thr4554=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936492	NM_003922.4(HERC1):c.13635C>G (p.Asp4545Glu)	HERC1 (D4545E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726645	NM_003922.4(HERC1):c.13612-6C>G	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1895642	NM_003922.4(HERC1):c.13612-14T>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262438	NM_003922.4(HERC1):c.13612-259T>C	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222326	NM_003922.4(HERC1):c.13612-289C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235409	NM_003922.4(HERC1):c.13611+138G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197514	NM_003922.4(HERC1):c.13577G>A (p.Gly4526Glu)	HERC1 (G4526E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 243011	NM_003922.4(HERC1):c.13559G>A (p.Gly4520Glu)	HERC1 (G4520E)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GPathogenic
Select item 754045	NM_003922.4(HERC1):c.13533G>A (p.Ala4511=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885361	NM_003922.4(HERC1):c.13516C>T (p.Arg4506Cys)	HERC1 (R4506C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2483265	NM_003922.4(HERC1):c.13495A>C (p.Lys4499Gln)	HERC1 (K4499Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371736	NM_003922.4(HERC1):c.13481C>T (p.Ala4494Val)	HERC1 (A4494V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2999124	NM_003922.4(HERC1):c.13473C>T (p.Val4491=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977698	NM_003922.4(HERC1):c.13455G>T (p.Lys4485Asn)	HERC1 (K4485N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934742	NM_003922.4(HERC1):c.13450C>T (p.Arg4484Trp)	HERC1 (R4484W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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