"GeneDx"[submitter] AND "UTRN"[gene] - ClinVar

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Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256854	NM_007124.3(UTRN):c.-92-204T>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275590	NM_007124.3(UTRN):c.-1G>A	UTRN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248204	NM_007124.3(UTRN):c.79+294C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151062	GRCh38/hg38 6q24.2(chr6:144418941-144485393)x3	LOC126859819, LOC129997378 +2 more	Copy number gain	See cases	GUncertain significance
Select item 146169	GRCh38/hg38 6q24.2(chr6:144418941-144464407)x3	LOC129997378, LOC132089372 +1 more	Copy number gain	See cases	GLikely benign
Select item 517721	NM_007124.3(UTRN):c.405+3G>A	UTRN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1239528	NM_007124.3(UTRN):c.855+193G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249127	NM_007124.3(UTRN):c.856-205A>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259121	NM_007124.3(UTRN):c.1158A>G (p.Glu386=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1231143	NM_007124.3(UTRN):c.1241+247A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227624	NM_007124.3(UTRN):c.1393-105A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277196	NM_007124.3(UTRN):c.1393-59G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241209	NM_007124.3(UTRN):c.1513-11C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230002	NM_007124.3(UTRN):c.1902+186A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268374	NM_007124.3(UTRN):c.2196+196T>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290712	NM_007124.3(UTRN):c.3067-71C>T	LOC126859819, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250958	NM_007124.3(UTRN):c.3336+150A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227770	NM_007124.3(UTRN):c.3337-252G>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257882	NM_007124.3(UTRN):c.3687+23G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235287	NM_007124.3(UTRN):c.3822+36C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228787	NM_007124.3(UTRN):c.4593+258A>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232866	NM_007124.3(UTRN):c.4945-5T>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242606	NM_007124.3(UTRN):c.5542-26dup	UTRN	Duplication (intron variant)	not provided	GBenign
Select item 1283291	NM_007124.3(UTRN):c.5542-25A>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243413	NM_007124.3(UTRN):c.5734-294A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286314	NM_007124.3(UTRN):c.5907-198T>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288643	NM_007124.3(UTRN):c.6233+141G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262048	NM_007124.3(UTRN):c.6233+205T>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277769	NM_007124.3(UTRN):c.6519+310C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236294	NM_007124.3(UTRN):c.6605A>G (p.Asn2202Ser)	UTRN (N2202S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1260980	NM_007124.3(UTRN):c.6810+50T>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235179	NM_007124.3(UTRN):c.6811-50C>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239947	NM_007124.3(UTRN):c.6928+55AC[15]	UTRN	Microsatellite (intron variant)	not provided	GBenign
Select item 1289435	NM_007124.3(UTRN):c.6928+93A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247752	NM_007124.3(UTRN):c.7289+120_7289+124dup	UTRN	Duplication (intron variant)	not provided	GBenign
Select item 1272584	NM_007124.3(UTRN):c.7652+84G>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228589	NM_007124.3(UTRN):c.7809+110_7809+111insG	UTRN	Insertion (intron variant)	not provided	GBenign
Select item 1266647	NM_007124.3(UTRN):c.7911G>A (p.Glu2637=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1248184	NM_007124.3(UTRN):c.7939+186A>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222162	NM_007124.3(UTRN):c.7940-95C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275383	NM_007124.3(UTRN):c.8209-41T>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259340	NM_007124.3(UTRN):c.8356-132C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234227	NM_007124.3(UTRN):c.8434+112C>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247604	NM_007124.3(UTRN):c.8495+269A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 144906	GRCh38/hg38 6q24.2-24.3(chr6:144764447-145609129)x3	EPM2A, LOC123864093 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1284049	NM_007124.3(UTRN):c.8633-211A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232315	NM_007124.3(UTRN):c.8834+218G>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227793	NM_007124.3(UTRN):c.8921-290A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257937	NM_007124.3(UTRN):c.8921-41T>C	LOC123864093, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250343	NM_007124.3(UTRN):c.8921-35A>G	LOC123864093, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281563	NM_007124.3(UTRN):c.9078+292C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257360	NM_007124.3(UTRN):c.9079-19A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262459	NM_007124.3(UTRN):c.9246-21A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262434	NM_007124.3(UTRN):c.9357+12C>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274391	NM_007124.3(UTRN):c.9357+124del	UTRN	Deletion (intron variant)	not provided	GBenign
Select item 1290836	NM_007124.3(UTRN):c.9358-147C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260333	NM_007124.3(UTRN):c.9494+327A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269728	NM_007124.3(UTRN):c.9534-57A>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234998	NM_007124.3(UTRN):c.9600-216A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179301	NM_007124.3(UTRN):c.9600-208G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225415	NM_007124.3(UTRN):c.10065+29C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270551	NM_007124.3(UTRN):c.10065+73G>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264057	NM_007124.3(UTRN):c.10270+33A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268724	NM_007124.3(UTRN):c.10270+257A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178534	NM_007124.3(UTRN):c.10293+15C>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288819	NM_007124.3(UTRN):c.10293+50G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226950	NM_007124.3(UTRN):c.10293+95A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221730	NM_007124.3(UTRN):c.10294-240T>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 68