ClinVar for Gene (Select 89766) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 249

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330966	NM_001004416.3(UMODL1):c.1528G>A (p.Glu510Lys)	UMODL1 (E510K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330965	NM_001004416.3(UMODL1):c.2170G>A (p.Glu724Lys)	UMODL1 (E652K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330964	NM_001004416.3(UMODL1):c.2511C>A (p.His837Gln)	UMODL1 (H893Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330963	NM_001004416.3(UMODL1):c.2228C>T (p.Pro743Leu)	UMODL1 (P799L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330962	NM_001004416.3(UMODL1):c.1640C>T (p.Ala547Val)	UMODL1 (A475V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330961	NM_001004416.3(UMODL1):c.1045G>C (p.Gly349Arg)	UMODL1 (G349R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330960	NM_001004416.3(UMODL1):c.2990A>G (p.Lys997Arg)	UMODL1 (K925R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330959	NM_001004416.3(UMODL1):c.653C>T (p.Ser218Leu)	UMODL1 (S146L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330958	NM_001004416.3(UMODL1):c.1205T>C (p.Val402Ala)	UMODL1, UMODL1-AS1 (V330A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3330957	NM_001004416.3(UMODL1):c.581A>G (p.His194Arg)	UMODL1 (H122R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330956	NM_001004416.3(UMODL1):c.2539G>A (p.Val847Ile)	UMODL1 (V975I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330955	NM_001004416.3(UMODL1):c.649C>T (p.His217Tyr)	UMODL1 (H217Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330954	NM_001004416.3(UMODL1):c.3325G>A (p.Ala1109Thr)	UMODL1 (A1165T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330953	NM_001004416.3(UMODL1):c.3880C>T (p.Arg1294Cys)	UMODL1 (R1222C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330952	NM_001004416.3(UMODL1):c.808T>C (p.Tyr270His)	UMODL1 (Y198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330951	NM_001004416.3(UMODL1):c.686G>A (p.Arg229Gln)	UMODL1 (R157Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3186439	NM_001004416.3(UMODL1):c.863C>T (p.Ser288Leu)	UMODL1 (S288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186438	NM_001004416.3(UMODL1):c.497C>G (p.Pro166Arg)	UMODL1 (P166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186437	NM_001004416.3(UMODL1):c.449G>C (p.Gly150Ala)	UMODL1 (G78A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186435	NM_001004416.3(UMODL1):c.3878T>C (p.Val1293Ala)	UMODL1 (V1221A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186434	NM_001004416.3(UMODL1):c.3839T>C (p.Ile1280Thr)	UMODL1 (I1408T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186433	NM_001004416.3(UMODL1):c.3767G>A (p.Arg1256Gln)	UMODL1 (R1184Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186432	NM_001004416.3(UMODL1):c.3707G>A (p.Arg1236Gln)	UMODL1 (R1236Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186431	NM_001004416.3(UMODL1):c.3655G>C (p.Val1219Leu)	UMODL1 (V1219L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186430	NM_001004416.3(UMODL1):c.3559G>T (p.Val1187Leu)	UMODL1 (V1115L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186429	NM_001004416.3(UMODL1):c.3401G>T (p.Ser1134Ile)	UMODL1 (S1134I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186428	NM_001004416.3(UMODL1):c.3391G>A (p.Val1131Met)	UMODL1 (V1131M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186427	NM_001004416.3(UMODL1):c.3206T>A (p.Ile1069Asn)	UMODL1 (I1197N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186426	NM_001004416.3(UMODL1):c.3181A>G (p.Arg1061Gly)	UMODL1 (R1189G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186425	NM_001004416.3(UMODL1):c.3067T>G (p.Ser1023Ala)	UMODL1 (S1023A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186424	NM_001004416.3(UMODL1):c.334G>A (p.Gly112Arg)	UMODL1 (G112R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186422	NM_001004416.3(UMODL1):c.2816G>A (p.Arg939Lys)	UMODL1 (R1067K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186421	NM_001004416.3(UMODL1):c.2734A>G (p.Thr912Ala)	UMODL1 (T968A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186420	NM_001004416.3(UMODL1):c.2438A>C (p.Gln813Pro)	UMODL1 (Q813P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186419	NM_001004416.3(UMODL1):c.2314A>C (p.Lys772Gln)	UMODL1 (K700Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186418	NM_001004416.3(UMODL1):c.268G>A (p.Val90Met)	UMODL1 (V18M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186417	NM_001004416.3(UMODL1):c.2147G>C (p.Ser716Thr)	UMODL1 (S716T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186416	NM_001004416.3(UMODL1):c.1900-147C>A	UMODL1 (P641T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186415	NM_001004416.3(UMODL1):c.1899+130A>C	UMODL1 (S677R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186414	NM_001004416.3(UMODL1):c.1899+67G>A	UMODL1 (G584R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186413	NM_001004416.3(UMODL1):c.1888G>A (p.Val630Met)	UMODL1 (V558M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186412	NM_001004416.3(UMODL1):c.1810G>A (p.Ala604Thr)	UMODL1 (A604T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186411	NM_001004416.3(UMODL1):c.1630C>A (p.Pro544Thr)	UMODL1 (P472T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186410	NM_001004416.3(UMODL1):c.1522T>C (p.Trp508Arg)	UMODL1 (W436R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186409	NM_001004416.3(UMODL1):c.1499G>T (p.Arg500Leu)	UMODL1, UMODL1-AS1 (R500L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186408	NM_001004416.3(UMODL1):c.1091C>T (p.Ala364Val)	UMODL1 (A292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186407	NM_001004416.3(UMODL1):c.1033C>T (p.Arg345Trp)	UMODL1 (R345W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3025392	NM_001004416.3(UMODL1):c.424C>T (p.Leu142Phe)	UMODL1 (L142F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652704	NM_001004416.3(UMODL1):c.3934A>G (p.Ser1312Gly)	UMODL1 (S1240G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652703	NM_001004416.3(UMODL1):c.3537T>G (p.Pro1179=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652702	NM_001004416.3(UMODL1):c.2517C>T (p.Asp839=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652701	NM_001004416.3(UMODL1):c.2368C>T (p.Arg790Trp)	UMODL1 (R718W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652700	NM_001004416.3(UMODL1):c.2115C>T (p.Ser705=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652699	NM_001004416.3(UMODL1):c.1653T>G (p.Cys551Trp)	UMODL1 (C479W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652698	NM_001004416.3(UMODL1):c.907C>A (p.Arg303=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652697	NM_001004416.3(UMODL1):c.846C>T (p.Cys282=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652696	NM_001004416.3(UMODL1):c.420T>A (p.Pro140=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652695	NM_001004416.3(UMODL1):c.255C>T (p.Pro85=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621029	NM_001004416.3(UMODL1):c.3390C>G (p.Ser1130Arg)	UMODL1 (S1258R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615747	NM_001004416.3(UMODL1):c.1684G>A (p.Gly562Arg)	UMODL1 (G490R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608075	NM_001004416.3(UMODL1):c.651C>G (p.His217Gln)	UMODL1 (H145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601554	NM_001004416.3(UMODL1):c.1270C>G (p.Gln424Glu)	UMODL1, UMODL1-AS1 (Q424E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2601343	NM_001004416.3(UMODL1):c.1252C>T (p.Arg418Cys)	UMODL1, UMODL1-AS1 (R346C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2588659	NM_001004416.3(UMODL1):c.650A>G (p.His217Arg)	UMODL1 (H145R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570094	NM_001004416.3(UMODL1):c.634A>G (p.Thr212Ala)	UMODL1 (T212A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568655	NM_001004416.3(UMODL1):c.302G>A (p.Gly101Asp)	UMODL1 (G101D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559739	NM_001004416.3(UMODL1):c.560T>G (p.Val187Gly)	UMODL1 (V187G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557221	NM_001004416.3(UMODL1):c.3418G>C (p.Glu1140Gln)	UMODL1 (E1140Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550772	NM_001004416.3(UMODL1):c.506C>T (p.Ser169Phe)	UMODL1 (S169F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544973	NM_001004416.3(UMODL1):c.376C>A (p.Pro126Thr)	UMODL1 (P126T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544438	NM_001004416.3(UMODL1):c.3173C>A (p.Thr1058Asn)	UMODL1 (T1114N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543647	NM_001004416.3(UMODL1):c.1899+87C>A	UMODL1 (S662R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536846	NM_001004416.3(UMODL1):c.2519C>T (p.Ala840Val)	UMODL1 (A896V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531610	NM_001004416.3(UMODL1):c.1275C>G (p.Asp425Glu)	UMODL1, UMODL1-AS1 (D353E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2518959	NM_001004416.3(UMODL1):c.3274G>A (p.Gly1092Ser)	UMODL1 (G1148S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518825	NM_001004416.3(UMODL1):c.1899+38G>C	UMODL1 (G574A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518773	NM_001004416.3(UMODL1):c.3251A>G (p.Gln1084Arg)	UMODL1 (Q1212R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515992	NM_001004416.3(UMODL1):c.3487A>G (p.Ser1163Gly)	UMODL1 (S1291G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509617	NM_001004416.3(UMODL1):c.1919T>C (p.Met640Thr)	UMODL1 (M696T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494472	NM_001004416.3(UMODL1):c.3844G>A (p.Val1282Met)	UMODL1 (V1210M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488923	NM_001004416.3(UMODL1):c.427G>A (p.Glu143Lys)	UMODL1 (E143K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487117	NM_001004416.3(UMODL1):c.3122G>A (p.Ser1041Asn)	UMODL1 (S1097N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480974	NM_001004416.3(UMODL1):c.1783C>T (p.Pro595Ser)	UMODL1 (P595S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470609	NM_001004416.3(UMODL1):c.1899+113C>T	UMODL1 (A671V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464389	NM_001004416.3(UMODL1):c.1610G>A (p.Arg537His)	UMODL1 (R465H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461319	NM_001004416.3(UMODL1):c.2480G>A (p.Arg827Gln)	UMODL1 (R755Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457693	NM_001004416.3(UMODL1):c.2566G>C (p.Val856Leu)	UMODL1 (V856L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457003	NM_001004416.3(UMODL1):c.3643T>A (p.Cys1215Ser)	UMODL1 (C1343S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2411556	NM_001004416.3(UMODL1):c.2944C>T (p.Arg982Trp)	UMODL1 (R1038W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3