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

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 1247777	NM_001278689.2(EOGT):c.292_293del	EOGT	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1213680	NM_001278689.2(EOGT):c.*293del	EOGT	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1296435	NM_001278689.2(EOGT):c.*183A>G	EOGT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1190005	NM_001278689.2(EOGT):c.1437+178A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181876	NM_001278689.2(EOGT):c.1335-247del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1251140	NM_001278689.2(EOGT):c.1335-254_1335-250del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1178093	NM_001278689.2(EOGT):c.1334+55_1334+56del	EOGT	Deletion (intron variant)	not provided	GLikely benign
Select item 791245	NM_001278689.2(EOGT):c.1237C>T (p.Leu413=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4 +1 more	GBenign/Likely benign
Select item 1222672	NM_001278689.2(EOGT):c.1215-160G>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240782	NM_001278689.2(EOGT):c.1215-310A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189085	NM_001278689.2(EOGT):c.1214+277T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474283	NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly)	EOGT (R405G +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 784012	NM_001278689.2(EOGT):c.1170A>G (p.Lys390=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4 +1 more	GBenign/Likely benign
Select item 1277785	NM_001278689.2(EOGT):c.1153-172C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269621	NM_001278689.2(EOGT):c.1152+59dup	EOGT	Duplication (intron variant)	not provided	GBenign
Select item 1275486	NM_001278689.2(EOGT):c.1152+71del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1187218	NM_001278689.2(EOGT):c.1152+70_1152+71del	EOGT	Deletion (intron variant)	not provided	GLikely benign
Select item 1196270	NM_001278689.2(EOGT):c.1152+45T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170244	NM_001278689.2(EOGT):c.1084-14C>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 1168129	NM_001278689.2(EOGT):c.1084-19C>T	EOGT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244410	NM_001278689.2(EOGT):c.1084-43C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297991	NM_001278689.2(EOGT):c.1084-118C>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229062	NM_001278689.2(EOGT):c.1084-294G>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276644	NM_001278689.2(EOGT):c.1084-304C>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182650	NM_001278689.2(EOGT):c.1083+245C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231965	NM_001278689.2(EOGT):c.1083+184A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273322	NM_001278689.2(EOGT):c.997-30T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215586	NM_001278689.2(EOGT):c.997-51A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229990	NM_001278689.2(EOGT):c.996+24C>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255384	NM_001278689.2(EOGT):c.912T>C (p.Tyr304=)	EOGT	Single nucleotide variant (synonymous variant +2 more)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 1179590	NM_001278689.2(EOGT):c.861C>T (p.Ser287=)	EOGT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1281297	NM_001278689.2(EOGT):c.840C>T (p.Tyr280=)	EOGT	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1178407	NM_001278689.2(EOGT):c.832-36T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266056	NM_001278689.2(EOGT):c.832-49T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265129	NM_001278689.2(EOGT):c.832-228A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259174	NM_001278689.2(EOGT):c.831+21C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 376918	NM_001278689.2(EOGT):c.783C>T (p.His261=)	EOGT	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 4 +1 more	GBenign/Likely benign
Select item 1248716	NM_001278689.2(EOGT):c.728-347G>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195673	NM_001278689.2(EOGT):c.727+241C>G	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2054176	NM_001278689.2(EOGT):c.621-2A>T	EOGT	Single nucleotide variant (splice acceptor variant)	Adams-Oliver syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 1260469	NM_001278689.2(EOGT):c.621-215T>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264071	NM_001278689.2(EOGT):c.620+85A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288763	NM_001278689.2(EOGT):c.620+82T>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198383	NM_001278689.2(EOGT):c.620+77_620+78del	EOGT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 446073	NM_001278689.2(EOGT):c.620+17G>A	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4 +1 more	GBenign/Likely benign
Select item 785635	NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)	EOGT (K188L)	Inversion (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 445295	NM_001278689.2(EOGT):c.563A>T (p.Lys188Ile)	EOGT (K188I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 445341	NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)	EOGT (K188*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1202058	NM_001278689.2(EOGT):c.515+164G>T	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279061	NM_001278689.2(EOGT):c.515+89C>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189260	NM_001278689.2(EOGT):c.515+62dup	EOGT	Duplication (intron variant)	not provided	GLikely benign
Select item 1220606	NM_001278689.2(EOGT):c.515+78del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1199601	NM_001278689.2(EOGT):c.515+26C>A	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249080	NM_001278689.2(EOGT):c.515+24dup	EOGT	Duplication (intron variant)	not provided	GBenign
Select item 683801	NM_001278689.2(EOGT):c.465A>G (p.Arg155=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1248922	NM_001278689.2(EOGT):c.421-226T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241582	NM_001278689.2(EOGT):c.420+341C>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270049	NM_001278689.2(EOGT):c.420+260C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204445	NM_001278689.2(EOGT):c.420+197dup	EOGT	Duplication (intron variant)	not provided	GLikely benign
Select item 1186199	NM_001278689.2(EOGT):c.420+196A>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254844	NM_001278689.2(EOGT):c.420+119C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174424	NM_001278689.2(EOGT):c.312-271A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197478	NM_001278689.2(EOGT):c.211-282T>A	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683791	NM_001278689.2(EOGT):c.210+5G>A	EOGT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 639398	NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser)	EOGT (T59S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 784681	NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg)	EOGT (P24R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1227693	NM_001278689.2(EOGT):c.-14-12T>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238868	NM_001278689.2(EOGT):c.-14-73_-14-70del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1275407	NM_001278689.2(EOGT):c.-14-73del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1181330	NM_001278689.2(EOGT):c.-14-76T>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215547	NM_001278689.2(EOGT):c.-14-79T>G	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257934	NM_001278689.2(EOGT):c.-14-90_-14-87del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1227842	NM_001278689.2(EOGT):c.-14-305C>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 74