UMODL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 2378124	NM_001004416.3(UMODL1):c.14C>T (p.Ser5Leu)	UMODL1 (S5L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2213778	NM_001004416.3(UMODL1):c.203G>A (p.Arg68Lys)	UMODL1 (R68K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359295	NM_001004416.3(UMODL1):c.219G>A (p.Met73Ile)	UMODL1 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652695	NM_001004416.3(UMODL1):c.255C>T (p.Pro85=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2380335	NM_001004416.3(UMODL1):c.292G>A (p.Glu98Lys)	UMODL1 (E26K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360571	NM_001004416.3(UMODL1):c.294A>T (p.Glu98Asp)	UMODL1 (E26D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2237671	NM_001004416.3(UMODL1):c.334G>C (p.Gly112Arg)	UMODL1 (G112R +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 2652696	NM_001004416.3(UMODL1):c.420T>A (p.Pro140=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2326987	NM_001004416.3(UMODL1):c.451G>A (p.Gly151Arg)	UMODL1 (G79R +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 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 2328069	NM_001004416.3(UMODL1):c.515A>G (p.Asn172Ser)	UMODL1 (N172S +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 2389673	NM_001004416.3(UMODL1):c.580C>A (p.His194Asn)	UMODL1 (H122N +1 more)	Single nucleotide variant (missense variant)	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 2208757	NM_001004416.3(UMODL1):c.623C>A (p.Pro208Gln)	UMODL1 (P136Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288353	NM_001004416.3(UMODL1):c.627G>A (p.Met209Ile)	UMODL1 (M137I +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 2246700	NM_001004416.3(UMODL1):c.637G>A (p.Val213Ile)	UMODL1 (V141I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 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 2367087	NM_001004416.3(UMODL1):c.778G>A (p.Val260Ile)	UMODL1 (V188I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1244172	NM_001004416.3(UMODL1):c.790+3T>G	UMODL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733444	NM_001004416.3(UMODL1):c.791-10T>C	UMODL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2652697	NM_001004416.3(UMODL1):c.846C>T (p.Cys282=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2652698	NM_001004416.3(UMODL1):c.907C>A (p.Arg303=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338144	NM_001004416.3(UMODL1):c.1018C>A (p.His340Asn)	UMODL1 (H268N +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 2362985	NM_001004416.3(UMODL1):c.1034G>A (p.Arg345Gln)	UMODL1 (R345Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391776	NM_001004416.3(UMODL1):c.1042C>T (p.Arg348Trp)	UMODL1 (R348W +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 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 2338328	NM_001004416.3(UMODL1):c.1097C>A (p.Ala366Asp)	UMODL1 (A366D +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 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 2272802	NM_001004416.3(UMODL1):c.1261G>T (p.Val421Leu)	UMODL1, UMODL1-AS1 (V349L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2233018	NM_001004416.3(UMODL1):c.1296C>A (p.His432Gln)	UMODL1, UMODL1-AS1 (H432Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2268148	NM_001004416.3(UMODL1):c.1364T>C (p.Ile455Thr)	UMODL1, UMODL1-AS1 (I383T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 742264	NM_001004416.3(UMODL1):c.1365C>T (p.Ile455=)	UMODL1, UMODL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2298115	NM_001004416.3(UMODL1):c.1423G>A (p.Gly475Arg)	UMODL1, UMODL1-AS1 (G403R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 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 2302907	NM_001004416.3(UMODL1):c.1604A>G (p.Gln535Arg)	UMODL1 (Q463R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3186411	NM_001004416.3(UMODL1):c.1630C>A (p.Pro544Thr)	UMODL1 (P472T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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