"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "HUWE1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3011932	NM_031407.7(HUWE1):c.13062G>A (p.Glu4354=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949265	NM_031407.7(HUWE1):c.13023-10_13023-8del	HUWE1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2787398	NM_031407.7(HUWE1):c.13022+17G>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991080	NM_031407.7(HUWE1):c.13022+17G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009778	NM_031407.7(HUWE1):c.13022+12G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740714	NM_031407.7(HUWE1):c.12996A>C (p.Thr4332=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1040586	NM_031407.7(HUWE1):c.12958A>T (p.Ile4320Phe)	HUWE1 (I4320F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971098	NM_031407.7(HUWE1):c.12903A>C (p.Thr4301=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 769214	NM_031407.7(HUWE1):c.12903A>G (p.Thr4301=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 375724	NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)	HUWE1 (K4295N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1928736	NM_031407.7(HUWE1):c.12864C>T (p.Phe4288=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2694628	NM_031407.7(HUWE1):c.12832-4A>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977872	NM_031407.7(HUWE1):c.12832-11C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961054	NM_031407.7(HUWE1):c.12831+14G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901512	NM_031407.7(HUWE1):c.12777C>A (p.Ile4259=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 588088	NM_031407.7(HUWE1):c.12774C>T (p.Asp4258=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1260180	NM_031407.7(HUWE1):c.12762G>A (p.Leu4254=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 738989	NM_031407.7(HUWE1):c.12650-6C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1999660	NM_031407.7(HUWE1):c.12650-13G>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916553	NM_031407.7(HUWE1):c.12650-15T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286794	NM_031407.7(HUWE1):c.12649+16C>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 589181	NM_031407.7(HUWE1):c.12582C>G (p.Ala4194=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2183784	NM_031407.7(HUWE1):c.12579G>A (p.Gly4193=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129244	NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 10678	NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	HUWE1 (R4187C)	Single nucleotide variant (missense variant)	Non-syndromic X-linked intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 1976133	NM_031407.7(HUWE1):c.12532-4C>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731785	NM_031407.7(HUWE1):c.12532-7G>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979070	NM_031407.7(HUWE1):c.12532-9T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1999048	NM_031407.7(HUWE1):c.12514C>G (p.Leu4172Val)	HUWE1 (L4172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152526	NM_031407.7(HUWE1):c.12342G>C (p.Val4114=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 589663	NM_031407.7(HUWE1):c.12330C>T (p.Val4110=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 722640	NM_031407.7(HUWE1):c.12309C>T (p.His4103=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 96203	NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)	HUWE1	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked syndromic, Turner type +3 more	GBenign
Select item 1242313	NM_031407.7(HUWE1):c.12137+17G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717131	NM_031407.7(HUWE1):c.12137+9C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2716329	NM_031407.7(HUWE1):c.12074A>G (p.His4025Arg)	HUWE1 (H4025R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198670	NM_031407.7(HUWE1):c.11996+9C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2099690	NM_031407.7(HUWE1):c.11996+6T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 738785	NM_031407.7(HUWE1):c.11985T>C (p.Asp3995=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973567	NM_031407.7(HUWE1):c.11952C>G (p.Val3984=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2724589	NM_031407.7(HUWE1):c.11888G>C (p.Arg3963Pro)	HUWE1 (R3963P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973273	NM_031407.7(HUWE1):c.11879-5C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2988956	NM_031407.7(HUWE1):c.11879-10C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2182127	NM_031407.7(HUWE1):c.11878+7G>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 982971	NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His)	HUWE1 (R3957H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182109	NM_031407.7(HUWE1):c.11847C>T (p.Pro3949=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1974374	NM_031407.7(HUWE1):c.11796C>T (p.Asp3932=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	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 1301248	NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu)	HUWE1 (P3916L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1341874	NM_031407.7(HUWE1):c.11710C>T (p.Arg3904Cys)	HUWE1 (R3904C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2865455	NM_031407.7(HUWE1):c.11667C>A (p.Val3889=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027390	NM_031407.7(HUWE1):c.11667C>G (p.Val3889=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980531	NM_031407.7(HUWE1):c.11649C>T (p.Val3883=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2047209	NM_031407.7(HUWE1):c.11632+15A>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1329791	NM_031407.7(HUWE1):c.11632+13C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 588079	NM_031407.7(HUWE1):c.11586G>A (p.Glu3862=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1994566	NM_031407.7(HUWE1):c.11562C>A (p.Asp3854Glu)	HUWE1 (D3854E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987138	NM_031407.7(HUWE1):c.11529G>A (p.Glu3843=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1299190	NM_031407.7(HUWE1):c.11481C>T (p.Ser3827=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 740470	NM_031407.7(HUWE1):c.11477-4C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810624	NM_031407.7(HUWE1):c.11477-6C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1902174	NM_031407.7(HUWE1):c.11476+15del	HUWE1	Deletion (intron variant)	not provided	GBenign
Select item 1942639	NM_031407.7(HUWE1):c.11476+8C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683867	NM_031407.7(HUWE1):c.11473A>G (p.Ile3825Val)	HUWE1 (I3825V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2877128	NM_031407.7(HUWE1):c.11461G>A (p.Asp3821Asn)	HUWE1 (D3821N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236833	NM_031407.7(HUWE1):c.11451C>T (p.Pro3817=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3003749	NM_031407.7(HUWE1):c.11418G>A (p.Glu3806=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 588722	NM_031407.7(HUWE1):c.11403G>A (p.Ala3801=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2768818	NM_031407.7(HUWE1):c.11382G>C (p.Ser3794=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987008	NM_031407.7(HUWE1):c.11380-11C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917828	NM_031407.7(HUWE1):c.11380-12C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1360482	NM_031407.7(HUWE1):c.11357G>A (p.Arg3786Gln)	HUWE1 (R3786Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058614	NM_031407.7(HUWE1):c.11339G>A (p.Arg3780His)	HUWE1 (R3780H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2184855	NM_031407.7(HUWE1):c.11260G>A (p.Gly3754Ser)	HUWE1 (G3754S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1906015	NM_031407.7(HUWE1):c.11252-5C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991552	NM_031407.7(HUWE1):c.11252-15T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841654	NM_031407.7(HUWE1):c.11212C>T (p.Arg3738Cys)	HUWE1 (R3738C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893813	NM_031407.7(HUWE1):c.11157C>T (p.Thr3719=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895353	NM_031407.7(HUWE1):c.11071G>A (p.Val3691Ile)	HUWE1 (V3691I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101405	NM_031407.7(HUWE1):c.11048+3G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731896	NM_031407.7(HUWE1):c.10971A>G (p.Gln3657=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 870378	NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln)	HUWE1 (R3655Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type +1 more	GConflicting classifications of pathogenicity
Select item 723249	NM_031407.7(HUWE1):c.10950C>T (p.Leu3650=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731057	NM_031407.7(HUWE1):c.10929C>T (p.Ala3643=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904219	NM_031407.7(HUWE1):c.10916-14C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701451	NM_031407.7(HUWE1):c.10830G>T (p.Arg3610=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1280033	NM_031407.7(HUWE1):c.10809C>T (p.Asn3603=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2181630	NM_031407.7(HUWE1):c.10794A>G (p.Leu3598=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911713	NM_031407.7(HUWE1):c.10759-13T>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811333	NM_031407.7(HUWE1):c.10720T>G (p.Ser3574Ala)	HUWE1 (S3574A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732501	NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2815000	NM_031407.7(HUWE1):c.10687G>T (p.Gly3563Cys)	HUWE1 (G3563C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909134	NM_031407.7(HUWE1):c.10679G>C (p.Ser3560Thr)	HUWE1 (S3560T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 764191	NM_031407.7(HUWE1):c.10671G>A (p.Ala3557=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1939869	NM_031407.7(HUWE1):c.10637-7C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815605	NM_031407.7(HUWE1):c.10618G>C (p.Ala3540Pro)	HUWE1 (A3540P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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