"Ambry Genetics"[submitter] AND "HUWE1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 198

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870389	NM_031407.7(HUWE1):c.13070G>A (p.Arg4357His)	HUWE1 (R4357H)	Single nucleotide variant (missense variant)	HUWE1-related neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 521434	NM_031407.7(HUWE1):c.12904G>A (p.Gly4302Ser)	HUWE1 (G4302S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 129251	NM_031407.7(HUWE1):c.12903= (p.Thr4301=)	HUWE1	Single nucleotide variant (no sequence alteration)	not provided +1 more	GBenign
Select item 521696	NM_031407.7(HUWE1):c.12880G>A (p.Ala4294Thr)	HUWE1 (A4294T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589065	NM_031407.7(HUWE1):c.12825T>A (p.Ser4275=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588088	NM_031407.7(HUWE1):c.12774C>T (p.Asp4258=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589226	NM_031407.7(HUWE1):c.12672G>A (p.Ala4224=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2499139	NM_031407.7(HUWE1):c.12603G>C (p.Glu4201Asp)	HUWE1 (E129D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589181	NM_031407.7(HUWE1):c.12582C>G (p.Ala4194=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129244	NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1761819	NM_031407.7(HUWE1):c.12567C>G (p.Leu4189=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 986150	NM_031407.7(HUWE1):c.12436A>G (p.Met4146Val)	HUWE1 (M4146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1758526	NM_031407.7(HUWE1):c.12429T>C (p.Tyr4143=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589663	NM_031407.7(HUWE1):c.12330C>T (p.Val4110=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1752355	NM_031407.7(HUWE1):c.12197A>G (p.Tyr4066Cys)	HUWE1 (Y4066C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 96203	NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 375718	NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	HUWE1 (R4023C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2227822	NM_031407.7(HUWE1):c.11992C>T (p.Arg3998Cys)	HUWE1 (R3998C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587854	NM_031407.7(HUWE1):c.11910A>G (p.Leu3970=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1742215	NM_031407.7(HUWE1):c.11811G>A (p.Arg3937=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1741160	NM_031407.7(HUWE1):c.11781G>A (p.Thr3927=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1737398	NM_031407.7(HUWE1):c.11633-4C>G	HUWE1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 435474	NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 588079	NM_031407.7(HUWE1):c.11586G>A (p.Glu3862=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition +2 more	GBenign/Likely benign
Select item 2284413	NM_031407.7(HUWE1):c.11528A>C (p.Glu3843Ala)	HUWE1 (E3843A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236833	NM_031407.7(HUWE1):c.11451C>T (p.Pro3817=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 588722	NM_031407.7(HUWE1):c.11403G>A (p.Ala3801=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition +2 more	GBenign/Likely benign
Select item 2269746	NM_031407.7(HUWE1):c.11320G>A (p.Ala3774Thr)	HUWE1 (A3774T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579296	NM_031407.7(HUWE1):c.11201G>A (p.Arg3734Gln)	HUWE1 (R3734Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303060	NM_031407.7(HUWE1):c.10997T>C (p.Leu3666Pro)	HUWE1 (L3666P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985533	NM_031407.7(HUWE1):c.10834G>T (p.Asp3612Tyr)	HUWE1 (D3612Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211158	NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2549162	NM_031407.7(HUWE1):c.10810G>A (p.Val3604Ile)	HUWE1 (V3604I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732501	NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1782051	NM_031407.7(HUWE1):c.10670C>T (p.Ala3557Val)	HUWE1 (A3557V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 435475	NM_031407.7(HUWE1):c.10614G>A (p.Thr3538=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 129249	NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition +3 more	GBenign/Likely benign
Select item 2385328	NM_031407.7(HUWE1):c.10546G>A (p.Ala3516Thr)	HUWE1 (A3516T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3107648	NM_031407.7(HUWE1):c.10517C>T (p.Thr3506Ile)	HUWE1 (T3506I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1220590	NM_031407.7(HUWE1):c.10510C>G (p.Pro3504Ala)	HUWE1 (P3504A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3107647	NM_031407.7(HUWE1):c.10505C>T (p.Pro3502Leu)	HUWE1 (P3502L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209284	NM_031407.7(HUWE1):c.10504C>T (p.Pro3502Ser)	HUWE1 (P3502S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588771	NM_031407.7(HUWE1):c.10502C>T (p.Thr3501Met)	HUWE1 (T3501M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 501624	NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr)	HUWE1 (A3498T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1775921	NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)	HUWE1 (T3496del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2228170	NM_031407.7(HUWE1):c.10461_10469del (p.3488STT[1])	HUWE1	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1254440	NM_031407.7(HUWE1):c.10459A>G (p.Thr3487Ala)	HUWE1 (T3487A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3107646	NM_031407.7(HUWE1):c.10435G>A (p.Gly3479Ser)	HUWE1 (G3479S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 588467	NM_031407.7(HUWE1):c.10434C>T (p.Ser3478=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 588211	NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2316439	NM_031407.7(HUWE1):c.10265C>G (p.Ser3422Cys)	HUWE1 (S3422C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 129248	NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1786506	NM_031407.7(HUWE1):c.10075A>G (p.Thr3359Ala)	HUWE1 (T3359A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588663	NM_031407.7(HUWE1):c.9952G>A (p.Gly3318Ser)	HUWE1 (G3318S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 587982	NM_031407.7(HUWE1):c.9936C>T (p.Thr3312=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2345453	NM_031407.7(HUWE1):c.9922G>T (p.Gly3308Trp)	HUWE1 (G3308W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589180	NM_031407.7(HUWE1):c.9920G>C (p.Gly3307Ala)	HUWE1 (G3307A)	Single nucleotide variant (missense variant)	HUWE1-related condition +2 more	GBenign/Likely benign
Select item 1768403	NM_031407.7(HUWE1):c.9852C>T (p.Ser3284=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 816926	NM_031407.7(HUWE1):c.9802C>T (p.Pro3268Ser)	HUWE1 (P3268S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2482872	NM_031407.7(HUWE1):c.9800G>T (p.Arg3267Leu)	HUWE1 (R3267L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589445	NM_031407.7(HUWE1):c.9797A>G (p.Asn3266Ser)	HUWE1 (N3266S)	Single nucleotide variant (missense variant)	HUWE1-related condition +2 more	GBenign/Likely benign
Select item 587803	NM_031407.7(HUWE1):c.9762G>A (p.Lys3254=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3107655	NM_031407.7(HUWE1):c.9605C>G (p.Thr3202Ser)	HUWE1 (T3202S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1767541	NM_031407.7(HUWE1):c.9603T>C (p.Asn3201=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3107654	NM_031407.7(HUWE1):c.9549C>T (p.His3183=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1767006	NM_031407.7(HUWE1):c.9459C>G (p.Phe3153Leu)	HUWE1 (F3153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107653	NM_031407.7(HUWE1):c.9449G>A (p.Gly3150Asp)	HUWE1 (G3150D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732312	NM_031407.7(HUWE1):c.9432C>G (p.Arg3144=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2622461	NM_031407.7(HUWE1):c.9397C>T (p.Arg3133Cys)	HUWE1 (R3133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587826	NM_031407.7(HUWE1):c.9360A>G (p.Ala3120=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 717763	NM_031407.7(HUWE1):c.9213T>C (p.Arg3071=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1765752	NM_031407.7(HUWE1):c.9097-5C>T	HUWE1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1254161	NM_031407.7(HUWE1):c.9010T>C (p.Ser3004Pro)	HUWE1 (S3004P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2273928	NM_031407.7(HUWE1):c.8862AGA[2] (p.Glu2956del)	HUWE1 (E2956del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 129247	NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=)	HUWE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 499827	NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)	HUWE1 (A2896V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2262206	NM_031407.7(HUWE1):c.8631_8654del (p.Glu2881_Ser2888del)	HUWE1	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1764119	NM_031407.7(HUWE1):c.8636G>A (p.Ser2879Asn)	HUWE1 (S2879N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253370	NM_031407.7(HUWE1):c.8599T>G (p.Leu2867Val)	HUWE1 (L2867V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763966	NM_031407.7(HUWE1):c.8599T>C (p.Leu2867=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1251757	NM_031407.7(HUWE1):c.8548A>T (p.Ser2850Cys)	HUWE1 (S2850C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2230773	NM_031407.7(HUWE1):c.8504C>A (p.Ser2835Tyr)	HUWE1 (S2835Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1205133	NM_031407.7(HUWE1):c.8495-20T>C	HUWE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 588183	NM_031407.7(HUWE1):c.8422G>A (p.Glu2808Lys)	HUWE1 (E2808K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589415	NM_031407.7(HUWE1):c.8392A>C (p.Thr2798Pro)	HUWE1 (T2798P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1944855	NM_031407.7(HUWE1):c.8258C>G (p.Ala2753Gly)	HUWE1 (A2753G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1762332	NM_031407.7(HUWE1):c.8189C>T (p.Thr2730Ile)	HUWE1 (T2730I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508217	NM_031407.7(HUWE1):c.8078G>A (p.Arg2693His)	HUWE1 (R2693H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607533	NM_031407.7(HUWE1):c.8008G>A (p.Val2670Ile)	HUWE1 (V2670I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1759286	NM_031407.7(HUWE1):c.7513A>G (p.Ile2505Val)	HUWE1 (I2505V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1759116	NM_031407.7(HUWE1):c.7485T>C (p.Phe2495=)	LOC126863262, HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2192432	NM_031407.7(HUWE1):c.7421T>C (p.Met2474Thr)	HUWE1, LOC126863262 (M2474T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2481998	NM_031407.7(HUWE1):c.7378G>C (p.Asp2460His)	HUWE1, LOC126863262 (D2460H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589267	NM_031407.7(HUWE1):c.7204G>T (p.Asp2402Tyr)	HUWE1, LOC126863262 (D2402Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208791	NM_031407.7(HUWE1):c.6632A>G (p.Asn2211Ser)	HUWE1 (N2211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269082	NM_031407.7(HUWE1):c.6620A>G (p.Asn2207Ser)	HUWE1 (N2207S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303628	NM_031407.7(HUWE1):c.6448G>T (p.Val2150Leu)	HUWE1 (V2150L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589495	NM_031407.7(HUWE1):c.6293A>T (p.Gln2098Leu)	HUWE1 (Q2098L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1186633	NM_031407.7(HUWE1):c.6283A>C (p.Thr2095Pro)	HUWE1 (T2095P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521794	NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)	HUWE1 (R2050Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2