"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HUWE1"[gen - ClinVar

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Items: 81

	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 738989	NM_031407.7(HUWE1):c.12650-6C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2499139	NM_031407.7(HUWE1):c.12603G>C (p.Glu4201Asp)	HUWE1 (E129D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10678	NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	HUWE1 (R4187C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3026720	NM_031407.7(HUWE1):c.12532-3T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 624422	NM_031407.7(HUWE1):c.12511G>T (p.Asp4171Tyr)	HUWE1 (D4171Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 375722	NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)	HUWE1 (L4157V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1299189	NM_031407.7(HUWE1):c.12463C>G (p.Gln4155Glu)	HUWE1 (Q4155E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 10676	NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)	HUWE1 (R4013W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 588079	NM_031407.7(HUWE1):c.11586G>A (p.Glu3862=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 872360	NM_031407.7(HUWE1):c.11575A>G (p.Met3859Val)	HUWE1 (M3859V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 810624	NM_031407.7(HUWE1):c.11477-6C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2660614	NM_031407.7(HUWE1):c.11401G>T (p.Ala3801Ser)	HUWE1 (A3801S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810625	NM_031407.7(HUWE1):c.11356C>T (p.Arg3786Trp)	HUWE1 (R3786W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660615	NM_031407.7(HUWE1):c.10883G>A (p.Arg3628His)	HUWE1 (R3628H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 872361	NM_031407.7(HUWE1):c.10758G>C (p.Glu3586Asp)	HUWE1 (E3586D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499140	NM_031407.7(HUWE1):c.10729A>G (p.Thr3577Ala)	HUWE1 (T3577A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2571368	NM_031407.7(HUWE1):c.10521A>C (p.Ala3507=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1775921	NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)	HUWE1 (T3496del)	Microsatellite (inframe_deletion)	HUWE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1676166	NM_031407.7(HUWE1):c.10232T>C (p.Val3411Ala)	HUWE1 (V3411A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879767	NM_031407.7(HUWE1):c.9964G>C (p.Val3322Leu)	HUWE1 (V3322L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660616	NM_031407.7(HUWE1):c.9913C>T (p.Arg3305Cys)	HUWE1 (R3305C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2583082	NM_031407.7(HUWE1):c.9833A>G (p.Lys3278Arg)	HUWE1 (K3278R)	Single nucleotide variant (missense variant)	HUWE1-related condition +1 more	GLikely benign
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 734353	NM_031407.7(HUWE1):c.9576A>T (p.Leu3192=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2660617	NM_031407.7(HUWE1):c.9488+8T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175822	NM_031407.7(HUWE1):c.9473G>A (p.Ser3158Asn)	HUWE1 (S3158N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027350	NM_031407.7(HUWE1):c.9309G>T (p.Arg3103=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1194092	NM_031407.7(HUWE1):c.9015G>A (p.Ala3005=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2660618	NM_031407.7(HUWE1):c.8865A>G (p.Glu2955=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932605	NM_031407.7(HUWE1):c.8782A>G (p.Thr2928Ala)	HUWE1 (T2928A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660619	NM_031407.7(HUWE1):c.8746G>A (p.Asp2916Asn)	HUWE1 (D2916N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660620	NM_031407.7(HUWE1):c.8454_8455insTGT (p.Ala2818_Glu2819insCys)	HUWE1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 435477	NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1335772	NM_031407.7(HUWE1):c.8202C>G (p.Leu2734=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872362	NM_031407.7(HUWE1):c.7970T>G (p.Val2657Gly)	HUWE1 (V2657G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579096	NM_031407.7(HUWE1):c.7900G>A (p.Ala2634Thr)	HUWE1 (A2634T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660621	NM_031407.7(HUWE1):c.7818C>G (p.Leu2606=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660622	NM_031407.7(HUWE1):c.7518C>T (p.Pro2506=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660623	NM_031407.7(HUWE1):c.6722A>G (p.Asn2241Ser)	HUWE1 (N2241S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660624	NM_031407.7(HUWE1):c.6312+7T>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2660625	NM_031407.7(HUWE1):c.6054T>C (p.Gly2018=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 590226	NM_031407.7(HUWE1):c.5952T>C (p.Gly1984=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 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 condition +2 more	GBenign/Likely benign
Select item 2660626	NM_031407.7(HUWE1):c.5548G>A (p.Ala1850Thr)	HUWE1 (A1850T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175823	NM_031407.7(HUWE1):c.5542A>G (p.Ser1848Gly)	HUWE1 (S1848G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1745759	NM_031407.7(HUWE1):c.5168C>T (p.Pro1723Leu)	HUWE1 (P1723L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 810626	NM_031407.7(HUWE1):c.5104A>G (p.Lys1702Glu)	HUWE1 (K1702E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175824	NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys)	HUWE1 (E1701K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 740154	NM_031407.7(HUWE1):c.4983A>G (p.Gln1661=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3025565	NM_031407.7(HUWE1):c.4635T>C (p.Ala1545=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 547839	NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val)	HUWE1 (A1410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 624423	NM_031407.7(HUWE1):c.4006A>G (p.Met1336Val)	HUWE1 (M1336V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807726	NM_031407.7(HUWE1):c.3863G>A (p.Arg1288Gln)	HUWE1, LOC126863263 (R1288Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 712668	NM_031407.7(HUWE1):c.3714A>T (p.Ala1238=)	LOC126863263, HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2660627	NM_031407.7(HUWE1):c.2991A>G (p.Ala997=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660628	NM_031407.7(HUWE1):c.2677C>T (p.Leu893=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175825	NM_031407.7(HUWE1):c.2655C>T (p.Leu885=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986087	NM_031407.7(HUWE1):c.2579G>A (p.Arg860His)	HUWE1 (R860H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2660629	NM_031407.7(HUWE1):c.2261+7_2261+8del	HUWE1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2660630	NM_031407.7(HUWE1):c.2173G>A (p.Ala725Thr)	HUWE1 (A725T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660631	NM_031407.7(HUWE1):c.2166A>C (p.Ala722=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660632	NM_031407.7(HUWE1):c.2163C>T (p.Ala721=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660633	NM_031407.7(HUWE1):c.1875G>C (p.Gln625His)	HUWE1 (Q625H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660634	NM_031407.7(HUWE1):c.1698A>G (p.Val566=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676167	NM_031407.7(HUWE1):c.1483A>G (p.Met495Val)	HUWE1 (M495V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 129245	NM_031407.7(HUWE1):c.1470A>G (p.Glu490=)	HUWE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2660635	NM_031407.7(HUWE1):c.1261G>A (p.Asp421Asn)	HUWE1 (D344N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026381	NM_031407.7(HUWE1):c.1243-7G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 724713	NM_031407.7(HUWE1):c.1242+4C>T	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related condition +2 more	GBenign/Likely benign
Select item 2174381	NM_031407.7(HUWE1):c.1237T>C (p.Leu413=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211160	NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=)	HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1299191	NM_031407.7(HUWE1):c.995C>T (p.Thr332Ile)	HUWE1 (T332I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660636	NM_031407.7(HUWE1):c.446C>T (p.Thr149Ile)	HUWE1 (T149I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660637	NM_031407.7(HUWE1):c.46-555_46-552del	HUWE1	Deletion (intron variant)	not provided	GLikely benign
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

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Items: 81