"GeneDx"[submitter] AND "CRYL1"[gene] - ClinVar

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Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 152617	GRCh38/hg38 13q12.11(chr13:20234405-20443962)x1	CRYL1, LOC126861704 +7 more	Copy number loss	See cases	GLikely benign
Select item 57616	GRCh38/hg38 13q12.11(chr13:20249154-20521759)x1	CRYL1, LOC112163647 +10 more	Copy number loss	See cases	GPathogenic
Select item 1281987	NC_000013.11:g.20365892C>T	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1258018	NC_000013.11:g.20366042T>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1260834	NC_000013.11:g.20366102C>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1259309	NC_000013.11:g.20366191T>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1260128	NC_000013.11:g.20366194C>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1275258	NC_000013.11:g.20370135G>A	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1288702	NC_000013.11:g.20370204A>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1291811	NC_000013.11:g.20374813A>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1228240	NC_000013.11:g.20374911A>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1291831	NC_000013.11:g.20380207C>T	CRYL1, LOC126861704	Single nucleotide variant	not provided	GBenign
Select item 1281832	NC_000013.11:g.20384771C>T	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1177677	NC_000013.11:g.20384959T>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1237672	NC_000013.11:g.20394680G>A	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1277311	NC_000013.11:g.20394826G>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1259497	NC_000013.11:g.20394867C>A	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1180302	NC_000013.11:g.20399447A>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1272364	NC_000013.11:g.20399746C>A	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1250645	NC_000013.11:g.20399776T>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1244887	NM_015974.3(CRYL1):c.847-123G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257693	NM_015974.3(CRYL1):c.846+159C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286617	NM_015974.3(CRYL1):c.846+110A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276123	NM_015974.3(CRYL1):c.740-84CT[2]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1248552	NM_015974.3(CRYL1):c.740-147C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239329	NM_015974.3(CRYL1):c.740-148G>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233052	NM_015974.3(CRYL1):c.740-224C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231853	NM_015974.3(CRYL1):c.634-137C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233024	NM_015974.3(CRYL1):c.634-202T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286730	NM_015974.3(CRYL1):c.634-841GT[12]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1271792	NM_015974.3(CRYL1):c.634-841GT[9]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1231237	NM_015974.3(CRYL1):c.634-841GT[10]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1181096	NM_015974.3(CRYL1):c.634-841GT[8]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1276026	NM_015974.3(CRYL1):c.634-868_634-867insC	CRYL1	Insertion (intron variant)	not provided	GBenign
Select item 1276576	NM_015974.3(CRYL1):c.634-868A>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254176	NM_015974.3(CRYL1):c.634-890CA[12]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1277685	NM_015974.3(CRYL1):c.634-870C>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181245	NM_015974.3(CRYL1):c.634-872C>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235385	NM_015974.3(CRYL1):c.634-1106T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290399	NM_015974.3(CRYL1):c.634-1273C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242658	NM_015974.3(CRYL1):c.634-5733C>T	CRYL1, LOC126861705	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267180	NM_015974.3(CRYL1):c.634-5968T>C	CRYL1, LOC126861705	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178250	NM_015974.3(CRYL1):c.633+8038G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249857	NM_015974.3(CRYL1):c.633+7804G>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278337	NM_015974.3(CRYL1):c.633+7621T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274379	NM_015974.3(CRYL1):c.633+3039C>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274138	NM_015974.3(CRYL1):c.633+2727T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278112	NM_015974.3(CRYL1):c.439-40A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243023	NM_015974.3(CRYL1):c.438+538dup	CRYL1	Duplication (intron variant)	not provided	GBenign
Select item 1260509	NM_015974.3(CRYL1):c.438+426C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294687	NM_015974.3(CRYL1):c.438+312C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286046	NM_015974.3(CRYL1):c.438+62C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232699	NM_015974.3(CRYL1):c.438+49G>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235975	NM_015974.3(CRYL1):c.438+47G>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267544	NM_015974.3(CRYL1):c.438+45C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258562	NM_015974.3(CRYL1):c.277-102T>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281298	NM_015974.3(CRYL1):c.277-202G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286551	NM_015974.3(CRYL1):c.277-9053A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290851	NM_015974.3(CRYL1):c.277-23654del	CRYL1	Deletion (intron variant)	not provided	GBenign
Select item 1287160	NM_015974.3(CRYL1):c.277-23715G>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233284	NM_015974.3(CRYL1):c.277-23750G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235927	NM_015974.3(CRYL1):c.277-23765T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287914	NM_015974.3(CRYL1):c.277-23961A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283463	NM_015974.3(CRYL1):c.277-24009C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269332	NM_015974.3(CRYL1):c.276+21003G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222123	NM_015974.3(CRYL1):c.276+20662A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281681	NM_015974.3(CRYL1):c.276+20613G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237527	NM_015974.3(CRYL1):c.276+15773G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275441	NM_015974.3(CRYL1):c.276+15651G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177836	NM_015974.3(CRYL1):c.276+11013G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272396	NM_015974.3(CRYL1):c.276+10988A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175204	NM_015974.3(CRYL1):c.276+6613CA[12]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239124	NM_015974.3(CRYL1):c.276+1231C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278601	NM_015974.3(CRYL1):c.276+1156T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230967	NM_015974.3(CRYL1):c.276+13C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228154	NM_015974.3(CRYL1):c.261T>C (p.Gly87=)	CRYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1274185	NM_015974.3(CRYL1):c.150-195G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294686	NM_015974.3(CRYL1):c.150-3445T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260631	NM_015974.3(CRYL1):c.150-3528G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267766	NM_015974.3(CRYL1):c.150-3576T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294688	NM_015974.3(CRYL1):c.150-3631A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242099	NM_015974.3(CRYL1):c.150-3686C>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294684	NM_015974.3(CRYL1):c.150-3772A>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274378	NM_015974.3(CRYL1):c.149+209T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236744	NM_015974.3(CRYL1):c.149+24A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289842	NM_015974.3(CRYL1):c.132C>T (p.Asn44=)	CRYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1251346	NM_015974.3(CRYL1):c.41+65T>G	CRYL1, LOC130009322	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240546	NC_000013.11:g.20525979G>C	CRYL1, LOC130009322	Single nucleotide variant	not provided	GBenign
Select item 1295020	NC_000013.11:g.20526029G>T	CRYL1, LOC130009322	Single nucleotide variant	not provided	GBenign
Select item 1243779	NC_000013.11:g.20526030G>A	CRYL1, LOC130009322	Single nucleotide variant	not provided	GBenign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 94