"GeneDx"[submitter] AND "SS18L1"[gene] - ClinVar

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Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1233705	NC_000020.11:g.62143722T>G	LOC130066293, SS18L1	Single nucleotide variant	not provided	GBenign
Select item 1182966	NM_198935.3(SS18L1):c.70-89A>G	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275993	NM_198935.3(SS18L1):c.70-56C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277479	NM_198935.3(SS18L1):c.146+62C>A	SS18L1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1236975	NM_198935.3(SS18L1):c.147-183C>G	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228888	NM_198935.3(SS18L1):c.147-180A>G	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262811	NM_198935.3(SS18L1):c.147-35G>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274683	NM_198935.3(SS18L1):c.231+81T>C	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249187	NM_198935.3(SS18L1):c.232-192C>A	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245616	NM_198935.3(SS18L1):c.232-43G>A	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222437	NM_198935.3(SS18L1):c.232-25C>T	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220783	NM_198935.3(SS18L1):c.376+175C>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271202	NM_198935.3(SS18L1):c.377-163C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246405	NM_198935.3(SS18L1):c.477G>A (p.Ser159=)	SS18L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1261187	NM_198935.3(SS18L1):c.556+83C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275649	NM_198935.3(SS18L1):c.556+91C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248303	NM_198935.3(SS18L1):c.556+156G>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222868	NM_198935.3(SS18L1):c.557-175C>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278048	NM_198935.3(SS18L1):c.557-170C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281670	NM_198935.3(SS18L1):c.557-165G>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282846	NM_198935.3(SS18L1):c.557-161A>G	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238855	NM_198935.3(SS18L1):c.609C>T (p.Gly203=)	SS18L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1239428	NM_198935.3(SS18L1):c.663C>T (p.Ser221=)	SS18L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1250125	NM_198935.3(SS18L1):c.722-228C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222203	NM_198935.3(SS18L1):c.722-122G>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289222	NM_198935.3(SS18L1):c.722-109C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220912	NM_198935.3(SS18L1):c.722-23C>G	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265613	NM_198935.3(SS18L1):c.823+140T>C	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276016	NM_198935.3(SS18L1):c.824-116G>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236512	NM_198935.3(SS18L1):c.824-31C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275638	NM_198935.3(SS18L1):c.916+15_916+16del	SS18L1	Deletion (intron variant)	not provided	GBenign
Select item 1242122	NM_198935.3(SS18L1):c.916+15T>C	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261257	NM_198935.3(SS18L1):c.916+19_916+31del	SS18L1	Deletion (intron variant)	not provided	GBenign
Select item 1264726	NM_198935.3(SS18L1):c.916+61C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222605	NM_198935.3(SS18L1):c.917-301C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252307	NM_198935.3(SS18L1):c.917-241G>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276930	NM_198935.3(SS18L1):c.917-165G>C	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981031	NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr)	SS18L1 (A190T +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1178393	NM_198935.3(SS18L1):c.1036+98T>C	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277521	NM_198935.3(SS18L1):c.1036+146C>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262517	NM_198935.3(SS18L1):c.1037-164del	SS18L1	Deletion (intron variant)	not provided	GBenign
Select item 1278392	NM_198935.3(SS18L1):c.1037-73A>T	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257594	NM_198935.3(SS18L1):c.1165-225G>A	SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 44