ClinVar for MedGen (Select 934733) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381174	NM_003922.4(HERC1):c.12574G>A (p.Ala4192Thr)	HERC1 (A4192T)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 3376487	NM_003922.4(HERC1):c.8932G>A (p.Val2978Met)	HERC1 (V2978M)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 3254784	NM_003922.4(HERC1):c.703C>T (p.Pro235Ser)	HERC1 (P235S)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 3251447	NM_003922.4(HERC1):c.8504del (p.Gly2835fs)	HERC1 (G2835fs)	Deletion (frameshift variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GPathogenic
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 3069015	NM_003922.4(HERC1):c.11160G>A (p.Trp3720Ter)	HERC1 (W3720*)	Single nucleotide variant (nonsense)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GPathogenic
Select item 2689206	NM_003922.4(HERC1):c.344A>T (p.Tyr115Phe)	HERC1 (Y115F)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 2440691	NM_003922.4(HERC1):c.8680+1G>T	HERC1	Single nucleotide variant (splice donor variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GLikely pathogenic
Select item 2432411	NM_003922.4(HERC1):c.28C>G (p.Leu10Val)	HERC1 (L10V)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 2431473	NM_003922.4(HERC1):c.10315A>G (p.Lys3439Glu)	HERC1 (K3439E)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 2431461	NM_003922.4(HERC1):c.13153del (p.Gln4385fs)	HERC1 (Q4385fs)	Deletion (frameshift variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GLikely pathogenic
Select item 2428745	NM_003922.4(HERC1):c.12394C>T (p.Gln4132Ter)	HERC1 (Q4132*)	Single nucleotide variant (nonsense)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 2384632	NM_003922.4(HERC1):c.4643T>C (p.Met1548Thr)	HERC1 (M1548T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2369909	NM_003922.4(HERC1):c.5941G>A (p.Val1981Ile)	HERC1 (V1981I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2364178	NM_003922.4(HERC1):c.12823C>T (p.Arg4275Cys)	HERC1 (R4275C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2362677	NM_003922.4(HERC1):c.6140A>G (p.Asn2047Ser)	HERC1 (N2047S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2235131	NM_003922.4(HERC1):c.4189C>T (p.Arg1397Cys)	HERC1 (R1397C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2171297	NM_003922.4(HERC1):c.3953C>G (p.Thr1318Arg)	HERC1 (T1318R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1992389	NM_003922.4(HERC1):c.4933C>T (p.Leu1645Phe)	HERC1 (L1645F)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1805622	NM_003922.4(HERC1):c.9134C>T (p.Ala3045Val)	HERC1 (A3045V)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1805621	NM_003922.4(HERC1):c.6314C>G (p.Thr2105Ser)	HERC1 (T2105S)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1708795	NM_003922.4(HERC1):c.10925T>C (p.Met3642Thr)	HERC1 (M3642T)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GConflicting classifications of pathogenicity
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 1325536	NM_003922.4(HERC1):c.577A>G (p.Ile193Val)	HERC1 (I193V)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +2 more	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 1285340	NM_003922.4(HERC1):c.9093G>A (p.Pro3031=)	HERC1	Single nucleotide variant (synonymous variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1285339	NM_003922.4(HERC1):c.9223+19T>C	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1279199	NM_003922.4(HERC1):c.11433+7T>C	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1270672	NM_003922.4(HERC1):c.5087G>C (p.Gly1696Ala)	HERC1 (G1696A)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1261782	NM_003922.4(HERC1):c.12879A>T (p.Ile4293=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1260045	NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val)	HERC1 (I2220V)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1257860	NM_003922.4(HERC1):c.11739C>G (p.Leu3913=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1250769	NM_003922.4(HERC1):c.3155-36G>A	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1248193	NM_003922.4(HERC1):c.5675-7A>G	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1243466	NM_003922.4(HERC1):c.11166G>C (p.Glu3722Asp)	HERC1 (E3722D)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1221445	NM_003922.4(HERC1):c.3743-8A>G	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1214609	NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly)	HERC1 (A663G)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign/Likely benign
Select item 1187133	NM_003922.4(HERC1):c.11332-15T>C	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign/Likely benign
Select item 1184340	NM_003922.4(HERC1):c.11078C>T (p.Thr3693Ile)	HERC1 (T3693I)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1032168	NM_003922.4(HERC1):c.7088C>T (p.Ser2363Leu)	HERC1 (S2363L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032167	NM_003922.4(HERC1):c.4631A>G (p.Lys1544Arg)	HERC1 (K1544R)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GConflicting classifications of pathogenicity
Select item 1032166	NM_003922.4(HERC1):c.3574T>C (p.Cys1192Arg)	HERC1 (C1192R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1031372	NM_003922.4(HERC1):c.1853A>C (p.Lys618Thr)	HERC1 (K618T)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1031371	NM_003922.4(HERC1):c.12302G>A (p.Gly4101Asp)	HERC1 (G4101D)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1031370	NM_003922.4(HERC1):c.11428T>G (p.Ser3810Ala)	HERC1 (S3810A)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1031369	NM_003922.4(HERC1):c.10739G>A (p.Arg3580Gln)	HERC1 (R3580Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028684	NM_003922.4(HERC1):c.9900T>A (p.Asn3300Lys)	HERC1 (N3300K)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028683	NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile)	HERC1 (V3147I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028682	NM_003922.4(HERC1):c.8617C>T (p.Arg2873Cys)	HERC1 (R2873C)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GUncertain significance
Select item 1028680	NM_003922.4(HERC1):c.6949C>A (p.Leu2317Ile)	HERC1 (L2317I)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028679	NM_003922.4(HERC1):c.6109C>G (p.Pro2037Ala)	HERC1 (P2037A)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028678	NM_003922.4(HERC1):c.5944G>A (p.Glu1982Lys)	HERC1 (E1982K)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028677	NM_003922.4(HERC1):c.3635A>T (p.Tyr1212Phe)	HERC1 (Y1212F)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028676	NM_003922.4(HERC1):c.11230C>T (p.Arg3744Trp)	HERC1 (R3744W)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GUncertain significance
Select item 996984	NM_003922.4(HERC1):c.-26-25134A>G	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 996983	NM_003922.4(HERC1):c.9869A>G (p.Gln3290Arg)	HERC1 (Q3290R)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GUncertain significance
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 931722	NM_003922.4(HERC1):c.4847T>G (p.Met1616Arg)	HERC1 (M1616R)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 871070	NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile)	HERC1 (V3803I)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GConflicting classifications of pathogenicity
Select item 804463	NM_178040.4(ERC1):c.3037dup (p.Leu1013fs)	ERC1 (L1013fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GLikely pathogenic
Select item 795963	NM_003922.4(HERC1):c.2319C>T (p.Asn773=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 782960	NM_003922.4(HERC1):c.12967-4C>G	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GLikely benign
Select item 730607	NM_003922.4(HERC1):c.10547-7C>T	HERC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 714628	NM_003922.4(HERC1):c.6195A>G (p.Thr2065=)	HERC1	Single nucleotide variant (synonymous variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GLikely benign
Select item 547868	NM_003922.4(HERC1):c.3021+6C>T	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 377238	NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)	HERC1 (G1125D)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +3 more	GConflicting classifications of pathogenicity
Select item 373369	NM_003922.4(HERC1):c.7615G>A (p.Ala2539Thr)	HERC1 (A2539T)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +3 more	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 243010	NM_003922.4(HERC1):c.2625G>A (p.Trp875Ter)	HERC1 (W875*)	Single nucleotide variant (nonsense)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GPathogenic
Select item 208859	NM_003922.4(HERC1):c.4906-2A>C	HERC1	Single nucleotide variant (splice acceptor variant)	Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability	GLikely pathogenic
Select item 188045	NM_003922.4(HERC1):c.9748C>T (p.Arg3250Ter)	HERC1 (R3250*)	Single nucleotide variant (nonsense)	Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability	GPathogenic

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Items: 71