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

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58366	GRCh38/hg38 2p21(chr2:44286091-44372899)x1	CAMKMT, LOC126806204 +2 more	Copy number loss	See cases	GUncertain significance
Select item 145998	GRCh38/hg38 2p21(chr2:44303991-44325759)x1	PREPL, SLC3A1	Copy number loss	See cases	GPathogenic
Select item 1291996	NM_000341.4(SLC3A1):c.1618-207A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228567	NM_000341.4(SLC3A1):c.1618-196A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1242368	NM_000341.4(SLC3A1):c.1618-102G>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 336214	NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)	PREPL, SLC3A1 (M618I)	Single nucleotide variant (missense variant +1 more)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 336215	NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)	PREPL, SLC3A1 (R658H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336217	NM_000341.4(SLC3A1):c.*131T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1267967	NM_001171613.2(PREPL):c.1828-29A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1058696	NM_001171613.2(PREPL):c.1827+5G>A	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 1244192	NM_001171613.2(PREPL):c.1754-165T>C	PREPL, SLC3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277735	NM_001171613.2(PREPL):c.1754-190C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275684	NM_001171613.2(PREPL):c.1753+135T>C	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222186	NM_001171613.2(PREPL):c.1629+168G>A	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221609	NM_001171613.2(PREPL):c.1629+111T>C	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 503804	NM_001171613.2(PREPL):c.1526del (p.Pro509fs)	PREPL (P509fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1259610	NM_001171613.2(PREPL):c.1480-121T>G	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223923	NM_001171613.2(PREPL):c.1479+117C>T	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489148	NM_001171613.2(PREPL):c.1263-1G>C	PREPL	Single nucleotide variant (splice acceptor variant)	Myasthenic syndrome, congenital, 22 +1 more	GPathogenic/Likely pathogenic
Select item 566684	NM_001171613.2(PREPL):c.1262+1G>A	PREPL	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1265807	NM_001171613.2(PREPL):c.1087-47A>G	PREPL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 524111	NM_001171613.2(PREPL):c.981dup (p.Tyr328fs)	PREPL (Y328fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1050141	NM_001171613.2(PREPL):c.967A>G (p.Ile323Val)	PREPL (I323V +2 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GConflicting classifications of pathogenicity
Select item 1307844	NM_001171613.2(PREPL):c.889C>G (p.Leu297Val)	PREPL (L297V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1265992	NM_001171613.2(PREPL):c.889-160G>A	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239160	NM_001171613.2(PREPL):c.888+197C>T	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274625	NM_001171613.2(PREPL):c.888+167A>G	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220715	NM_001171613.2(PREPL):c.888+43T>A	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 569764	NM_001171613.2(PREPL):c.888+1G>A	PREPL	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548713	NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)	PREPL (R295* +1 more)	Single nucleotide variant (nonsense)	Myasthenic syndrome, congenital, 22 +1 more	GPathogenic/Likely pathogenic
Select item 1249333	NM_001171613.2(PREPL):c.486-191C>G	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265609	NM_001171613.2(PREPL):c.485+228A>T	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222244	NM_001171613.2(PREPL):c.485+82C>T	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169054	NM_001171613.2(PREPL):c.350-12_350-10del	PREPL	Microsatellite (intron variant)	Myasthenic syndrome, congenital, 22 +1 more	GBenign
Select item 1262717	NM_001171613.2(PREPL):c.350-63dup	PREPL	Duplication (intron variant)	not provided	GBenign
Select item 1257361	NM_001171613.2(PREPL):c.350-49del	PREPL	Deletion (intron variant)	not provided	GBenign
Select item 1280359	NM_001171613.2(PREPL):c.350-173A>G	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289747	NM_001171613.2(PREPL):c.349+108G>A	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181118	NM_001171613.2(PREPL):c.349+80G>T	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 478318	NM_001171613.2(PREPL):c.225T>A (p.Ala75=)	PREPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 583046	NM_001171613.2(PREPL):c.167del (p.Leu56fs)	PREPL (L145fs +1 more)	Deletion (frameshift variant)	PREPL-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1167542	NM_001171613.2(PREPL):c.143-19C>T	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22 +1 more	GBenign
Select item 1221637	NM_001171613.2(PREPL):c.143-128_143-126del	PREPL	Deletion (intron variant)	not provided	GBenign
Select item 1248567	NM_001171613.2(PREPL):c.143-185G>A	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252822	NM_001171613.2(PREPL):c.76-1G>C	PREPL	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1270198	NM_001171613.2(PREPL):c.76-124C>T	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239155	NM_001171613.2(PREPL):c.75+134_75+139del	PREPL	Deletion (intron variant)	not provided	GBenign
Select item 1273783	NM_001171613.2(PREPL):c.-48-95C>G	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239502	NM_001171613.2(PREPL):c.-48-95C>T	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263401	NM_001171613.2(PREPL):c.-48-129A>G	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282537	NM_001171613.2(PREPL):c.-48-142C>A	PREPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167543	NM_001171613.2(PREPL):c.-49+1898A>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22 +1 more	GBenign

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Items: 53