"HUWE1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1260180	NM_031407.7(HUWE1):c.12762G>A (p.Leu4254=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 129244	NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 717131	NM_031407.7(HUWE1):c.12137+9C>T	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related disorder +1 more	GBenign/Likely benign
Select item 588079	NM_031407.7(HUWE1):c.11586G>A (p.Glu3862=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2635854	NM_031407.7(HUWE1):c.11482G>A (p.Asp3828Asn)	HUWE1 (D3828N)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 588722	NM_031407.7(HUWE1):c.11403G>A (p.Ala3801=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2629355	NM_031407.7(HUWE1):c.11354C>T (p.Ala3785Val)	HUWE1 (A3785V)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 1939869	NM_031407.7(HUWE1):c.10637-7C>T	HUWE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 129249	NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder +3 more	GBenign/Likely benign
Select item 1775921	NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)	HUWE1 (T3496del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2628587	NM_031407.7(HUWE1):c.10436G>A (p.Gly3479Asp)	HUWE1 (G3479D)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 588467	NM_031407.7(HUWE1):c.10434C>T (p.Ser3478=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 589180	NM_031407.7(HUWE1):c.9920G>C (p.Gly3307Ala)	HUWE1 (G3307A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2583082	NM_031407.7(HUWE1):c.9833A>G (p.Lys3278Arg)	HUWE1 (K3278R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 589445	NM_031407.7(HUWE1):c.9797A>G (p.Asn3266Ser)	HUWE1 (N3266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 587826	NM_031407.7(HUWE1):c.9360A>G (p.Ala3120=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder +2 more	GBenign
Select item 1326517	NM_031407.7(HUWE1):c.9357C>T (p.Ser3119=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder +1 more	GBenign/Likely benign
Select item 3029947	NM_031407.7(HUWE1):c.9174T>C (p.Pro3058=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder	GLikely benign
Select item 3029780	NM_031407.7(HUWE1):c.8984C>T (p.Thr2995Ile)	HUWE1 (T2995I)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 2015522	NM_031407.7(HUWE1):c.8882-3C>T	HUWE1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 3030983	NM_031407.7(HUWE1):c.8807C>G (p.Ser2936Cys)	HUWE1 (S2936C)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 499827	NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)	HUWE1 (A2896V)	Single nucleotide variant (missense variant)	HUWE1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3032409	NM_031407.7(HUWE1):c.8418A>T (p.Pro2806=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder	GLikely benign
Select item 1969470	NM_031407.7(HUWE1):c.8206+6T>C	HUWE1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3045485	NM_031407.7(HUWE1):c.8206+5C>G	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related disorder	GLikely benign
Select item 3029237	NM_031407.7(HUWE1):c.8206+4A>G	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related disorder	GLikely benign
Select item 3056307	NM_031407.7(HUWE1):c.8190T>C (p.Thr2730=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder	GLikely benign
Select item 3036879	NM_031407.7(HUWE1):c.7686T>C (p.His2562=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder	GLikely benign
Select item 2634930	NM_031407.7(HUWE1):c.7667A>G (p.Asn2556Ser)	HUWE1 (N2556S)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 710788	NM_031407.7(HUWE1):c.7305GGA[4] (p.Glu2440del)	HUWE1, LOC126863262 (E2440del)	Microsatellite (inframe_deletion)	HUWE1-related disorder +1 more	GBenign/Likely benign
Select item 3054300	NM_031407.7(HUWE1):c.6793G>A (p.Gly2265Ser)	HUWE1 (G2265S)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GLikely benign
Select item 2631240	NM_031407.7(HUWE1):c.6652A>G (p.Lys2218Glu)	HUWE1 (K2218E)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GLikely pathogenic
Select item 129255	NM_031407.7(HUWE1):c.6031-4T>A	HUWE1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked syndromic, Turner type +3 more	GBenign/Likely benign
Select item 1750867	NM_031407.7(HUWE1):c.5987G>A (p.Arg1996His)	HUWE1 (R1996H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2628723	NM_031407.7(HUWE1):c.5974C>T (p.Arg1992Trp)	HUWE1 (R1992W)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GLikely pathogenic
Select item 719125	NM_031407.7(HUWE1):c.5885-8T>C	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related disorder +1 more	GBenign
Select item 2992972	NM_031407.7(HUWE1):c.5885-10G>A	HUWE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2633826	NM_031407.7(HUWE1):c.5884G>A (p.Ala1962Thr)	HUWE1 (A1962T)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 2629967	NM_031407.7(HUWE1):c.5822C>G (p.Thr1941Ser)	HUWE1 (T1941S)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 129254	NM_031407.7(HUWE1):c.5716+5G>A	HUWE1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 252752	NM_031407.7(HUWE1):c.5642A>G (p.Asn1881Ser)	HUWE1 (N1881S)	Single nucleotide variant (missense variant)	HUWE1-related disorder +3 more	GBenign/Likely benign
Select item 3032684	NM_031407.7(HUWE1):c.5641A>G (p.Asn1881Asp)	HUWE1 (N1881D)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GLikely benign
Select item 2637195	NM_031407.7(HUWE1):c.5330C>G (p.Ala1777Gly)	HUWE1 (A1777G)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 1745670	NM_031407.7(HUWE1):c.5150A>G (p.Asn1717Ser)	HUWE1 (N1717S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1723246	NM_031407.7(HUWE1):c.5108C>T (p.Thr1703Met)	HUWE1 (T1703M)	Single nucleotide variant (missense variant)	HUWE1-related disorder +1 more	GUncertain significance
Select item 211166	NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2636194	NM_031407.7(HUWE1):c.4841G>T (p.Ser1614Ile)	HUWE1 (S1614I)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 2635323	NM_031407.7(HUWE1):c.4515T>G (p.Ser1505Arg)	HUWE1 (S1505R)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 129246	NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3029661	NM_031407.7(HUWE1):c.4300G>C (p.Asp1434His)	HUWE1 (D1434H)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 2633098	NM_031407.7(HUWE1):c.3815C>T (p.Ser1272Leu)	HUWE1, LOC126863263 (S1272L)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 3058338	NM_031407.7(HUWE1):c.3503+6G>A	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related disorder	GLikely benign
Select item 196188	NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)	HUWE1 (T1028A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2077067	NM_031407.7(HUWE1):c.2636A>G (p.Asn879Ser)	HUWE1 (N879S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3054699	NM_031407.7(HUWE1):c.2338A>G (p.Ile780Val)	HUWE1 (I780V)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 2629233	NM_031407.7(HUWE1):c.2329G>A (p.Val777Met)	HUWE1 (V777M)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GLikely pathogenic
Select item 3036807	NM_031407.7(HUWE1):c.2150G>A (p.Arg717Lys)	HUWE1 (R717K)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 435482	NM_031407.7(HUWE1):c.1953C>G (p.Pro651=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1900144	NM_031407.7(HUWE1):c.1686G>A (p.Val562=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 745276	NM_031407.7(HUWE1):c.1383+2TAT[2]	HUWE1	Microsatellite (splice donor variant)	not provided +1 more	GLikely benign
Select item 724713	NM_031407.7(HUWE1):c.1242+4C>T	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related disorder +2 more	GBenign/Likely benign
Select item 2633761	NM_031407.7(HUWE1):c.1129C>T (p.Pro377Ser)	HUWE1 (P300S +1 more)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GLikely pathogenic
Select item 2412952	NM_031407.7(HUWE1):c.947C>T (p.Thr316Met)	HUWE1 (T239M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633224	NM_031407.7(HUWE1):c.613G>C (p.Asp205His)	HUWE1 (D128H +1 more)	Single nucleotide variant (missense variant)	HUWE1-related disorder	GUncertain significance
Select item 588451	NM_031407.7(HUWE1):c.411C>G (p.Leu137=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 211163	NM_031407.7(HUWE1):c.147C>T (p.Cys49=)	HUWE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3055024	NM_031407.7(HUWE1):c.105C>T (p.Leu35=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related disorder	GLikely benign
Select item 129256	NM_031407.7(HUWE1):c.99A>G (p.Gln33=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68