ClinVar for Gene (Select 8925) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239297	NM_003922.4(HERC1):c.6111G>A (p.Pro2037=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3234807	NM_003922.4(HERC1):c.9354C>T (p.Ser3118=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105351	NM_003922.4(HERC1):c.9473G>T (p.Gly3158Val)	HERC1 (G3158V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105350	NM_003922.4(HERC1):c.946C>T (p.Arg316Trp)	HERC1 (R316W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105349	NM_003922.4(HERC1):c.9153G>C (p.Lys3051Asn)	HERC1 (K3051N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105348	NM_003922.4(HERC1):c.8759C>T (p.Ala2920Val)	HERC1 (A2920V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105347	NM_003922.4(HERC1):c.8293C>T (p.Arg2765Trp)	HERC1 (R2765W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105346	NM_003922.4(HERC1):c.8101A>T (p.Thr2701Ser)	HERC1 (T2701S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105345	NM_003922.4(HERC1):c.7970C>T (p.Ala2657Val)	HERC1 (A2657V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105344	NM_003922.4(HERC1):c.7499A>T (p.Gln2500Leu)	HERC1 (Q2500L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105343	NM_003922.4(HERC1):c.7287G>T (p.Glu2429Asp)	HERC1 (E2429D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105342	NM_003922.4(HERC1):c.6803A>C (p.Glu2268Ala)	HERC1 (E2268A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105341	NM_003922.4(HERC1):c.64A>G (p.Thr22Ala)	HERC1 (T22A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105340	NM_003922.4(HERC1):c.6338C>G (p.Ala2113Gly)	HERC1 (A2113G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105339	NM_003922.4(HERC1):c.574G>A (p.Val192Ile)	HERC1 (V192I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105337	NM_003922.4(HERC1):c.4642A>G (p.Met1548Val)	HERC1 (M1548V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105336	NM_003922.4(HERC1):c.4478C>T (p.Thr1493Ile)	HERC1 (T1493I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105335	NM_003922.4(HERC1):c.436G>A (p.Val146Ile)	HERC1 (V146I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105334	NM_003922.4(HERC1):c.3887T>C (p.Val1296Ala)	HERC1 (V1296A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105333	NM_003922.4(HERC1):c.3880T>C (p.Ser1294Pro)	HERC1 (S1294P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105332	NM_003922.4(HERC1):c.3534C>G (p.Phe1178Leu)	HERC1 (F1178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105331	NM_003922.4(HERC1):c.3319G>T (p.Asp1107Tyr)	HERC1 (D1107Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105330	NM_003922.4(HERC1):c.3291A>C (p.Arg1097Ser)	HERC1 (R1097S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105329	NM_003922.4(HERC1):c.2629A>T (p.Ser877Cys)	HERC1 (S877C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105328	NM_003922.4(HERC1):c.2118T>G (p.Ile706Met)	HERC1 (I706M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105327	NM_003922.4(HERC1):c.1729T>C (p.Ser577Pro)	HERC1 (S577P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3105325	NM_003922.4(HERC1):c.13312A>G (p.Ile4438Val)	HERC1 (I4438V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105324	NM_003922.4(HERC1):c.13163C>T (p.Ala4388Val)	HERC1 (A4388V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105323	NM_003922.4(HERC1):c.13153C>G (p.Gln4385Glu)	HERC1 (Q4385E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105322	NM_003922.4(HERC1):c.13153C>A (p.Gln4385Lys)	HERC1 (Q4385K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105321	NM_003922.4(HERC1):c.13037G>A (p.Arg4346Gln)	HERC1 (R4346Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105320	NM_003922.4(HERC1):c.12703G>A (p.Val4235Ile)	HERC1 (V4235I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105319	NM_003922.4(HERC1):c.12244A>C (p.Thr4082Pro)	HERC1 (T4082P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105317	NM_003922.4(HERC1):c.11807C>T (p.Ala3936Val)	HERC1 (A3936V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105316	NM_003922.4(HERC1):c.11686C>G (p.Leu3896Val)	HERC1 (L3896V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105314	NM_003922.4(HERC1):c.11386G>A (p.Val3796Ile)	HERC1 (V3796I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105313	NM_003922.4(HERC1):c.11079T>C (p.Thr3693=)	HERC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3105312	NM_003922.4(HERC1):c.10705A>G (p.Thr3569Ala)	HERC1 (T3569A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105311	NM_003922.4(HERC1):c.10660C>T (p.Arg3554Trp)	HERC1 (R3554W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105310	NM_003922.4(HERC1):c.10316A>C (p.Lys3439Thr)	HERC1 (K3439T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105309	NM_003922.4(HERC1):c.10264A>G (p.Ile3422Val)	HERC1 (I3422V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3058347	NM_003922.4(HERC1):c.11922C>T (p.Asn3974=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 3057777	NM_003922.4(HERC1):c.11016A>G (p.Val3672=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 3049621	NM_003922.4(HERC1):c.10989A>G (p.Leu3663=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 3048949	NM_003922.4(HERC1):c.7847-10del	HERC1	Deletion (intron variant)	HERC1-related disorder	GLikely benign
Select item 3048770	NM_003922.4(HERC1):c.12233-7G>A	HERC1	Single nucleotide variant (intron variant)	HERC1-related disorder	GLikely benign
Select item 3046586	NM_003922.4(HERC1):c.11853C>G (p.Thr3951=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 3036161	NM_003922.4(HERC1):c.1938T>C (p.Cys646=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder +1 more	GLikely benign
Select item 3030589	NM_003922.4(HERC1):c.12232+7T>C	HERC1	Single nucleotide variant (intron variant)	HERC1-related disorder	GLikely benign
Select item 3027203	NM_003922.4(HERC1):c.8680+7T>C	HERC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3027201	NM_003922.4(HERC1):c.12488A>G (p.Tyr4163Cys)	HERC1 (Y4163C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027116	NM_003922.4(HERC1):c.8999C>T (p.Pro3000Leu)	HERC1 (P3000L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026642	NM_003922.4(HERC1):c.8484C>T (p.Pro2828=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025507	NM_003922.4(HERC1):c.14073A>T (p.Arg4691=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025189	NM_003922.4(HERC1):c.11631A>G (p.Gln3877=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022720	NM_003922.4(HERC1):c.4530G>A (p.Ser1510=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021598	NM_003922.4(HERC1):c.12967-19A>G	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021255	NM_003922.4(HERC1):c.14095-9C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016912	NM_003922.4(HERC1):c.1281C>T (p.Cys427=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016056	NM_003922.4(HERC1):c.7029G>A (p.Thr2343=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016003	NM_003922.4(HERC1):c.5736C>T (p.Arg1912=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009208	NM_003922.4(HERC1):c.3568+7T>C	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004934	NM_003922.4(HERC1):c.8207-12C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999124	NM_003922.4(HERC1):c.13473C>T (p.Val4491=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998935	NM_003922.4(HERC1):c.1774+17_1774+20del	HERC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2998752	NM_003922.4(HERC1):c.9102G>A (p.Leu3034=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998024	NM_003922.4(HERC1):c.10671A>C (p.Gly3557=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992683	NM_003922.4(HERC1):c.13176C>A (p.Val4392=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992554	NM_003922.4(HERC1):c.9859T>C (p.Leu3287=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990990	NM_003922.4(HERC1):c.11178T>C (p.Asn3726=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990869	NM_003922.4(HERC1):c.10418+10A>G	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990291	NM_003922.4(HERC1):c.14400+12A>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990092	NM_003922.4(HERC1):c.4951A>T (p.Met1651Leu)	HERC1 (M1651L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984676	NM_003922.4(HERC1):c.10026A>G (p.Leu3342=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980105	NM_003922.4(HERC1):c.3569-14A>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977923	NM_003922.4(HERC1):c.10418+18G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977039	NM_003922.4(HERC1):c.4941A>G (p.Leu1647=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974321	NM_003922.4(HERC1):c.8367C>T (p.Ala2789=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973890	NM_003922.4(HERC1):c.11138A>G (p.Asn3713Ser)	HERC1 (N3713S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973571	NM_003922.4(HERC1):c.5353T>C (p.Leu1785=)	HERC1	Single nucleotide variant (synonymous 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 2972742	NM_003922.4(HERC1):c.1535T>C (p.Val512Ala)	HERC1 (V512A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2970608	NM_003922.4(HERC1):c.8631A>G (p.Thr2877=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969544	NM_003922.4(HERC1):c.12966+20G>C	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965920	NM_003922.4(HERC1):c.8045+19A>C	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965849	NM_003922.4(HERC1):c.3569-17G>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965510	NM_003922.4(HERC1):c.9424+20T>C	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965246	NM_003922.4(HERC1):c.6465+12C>T	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964520	NM_003922.4(HERC1):c.11078+12A>G	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959371	NM_003922.4(HERC1):c.1188C>G (p.Pro396=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956542	NM_003922.4(HERC1):c.11976C>T (p.His3992=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956072	NM_003922.4(HERC1):c.1026+13C>A	HERC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918639	NM_003922.4(HERC1):c.7278G>C (p.Gly2426=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915957	NM_003922.4(HERC1):c.10509C>T (p.Gly3503=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910616	NM_003922.4(HERC1):c.10614G>A (p.Pro3538=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909322	NM_003922.4(HERC1):c.1815T>A (p.Pro605=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908798	NM_003922.4(HERC1):c.12030G>A (p.Leu4010=)	HERC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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