FRRS1L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 1260058	NM_014334.4(FRRS1L):c.*281T>C	FRRS1L	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2813813	NM_014334.4(FRRS1L):c.879C>T (p.Pro293=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1140811	NM_014334.4(FRRS1L):c.873A>T (p.Gly291=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 810404	NM_014334.4(FRRS1L):c.869T>A (p.Met290Lys)	FRRS1L (M290K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804524	NM_014334.4(FRRS1L):c.862C>T (p.Leu288=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 542869	NM_014334.4(FRRS1L):c.862C>G (p.Leu288Val)	FRRS1L (L288V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2113471	NM_014334.4(FRRS1L):c.861C>G (p.Tyr287Ter)	FRRS1L (Y287*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 839992	NM_014334.4(FRRS1L):c.860A>G (p.Tyr287Cys)	FRRS1L (Y287C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 754565	NM_014334.4(FRRS1L):c.852G>A (p.Leu284=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1061006	NM_014334.4(FRRS1L):c.851T>G (p.Leu284Arg)	FRRS1L (L284R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1498294	NM_014334.4(FRRS1L):c.830G>A (p.Cys277Tyr)	FRRS1L (C277Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance
Select item 1645425	NM_014334.4(FRRS1L):c.822T>A (p.Ser274=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1313631	NM_014334.4(FRRS1L):c.820T>A (p.Ser274Thr)	FRRS1L (S274T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412011	NM_014334.4(FRRS1L):c.818C>T (p.Ser273Leu)	FRRS1L (S273L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1545798	NM_014334.4(FRRS1L):c.813C>T (p.Thr271=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 3097037	NM_014334.4(FRRS1L):c.809A>C (p.Gln270Pro)	FRRS1L (Q270P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218151	NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter)	FRRS1L (Q321* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 2103597	NM_014334.4(FRRS1L):c.806A>G (p.Tyr269Cys)	FRRS1L (Y269C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1381158	NM_014334.4(FRRS1L):c.802G>A (p.Ala268Thr)	FRRS1L (A268T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 646195	NM_014334.4(FRRS1L):c.794C>T (p.Pro265Leu)	FRRS1L (P265L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1307708	NM_014334.4(FRRS1L):c.792_793delinsAA (p.Met264_Pro265delinsIleThr)	FRRS1L	Indel (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance
Select item 1486634	NM_014334.4(FRRS1L):c.785T>G (p.Ile262Ser)	FRRS1L (I262S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 659738	NM_014334.4(FRRS1L):c.784A>G (p.Ile262Val)	FRRS1L (I262V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2531578	NM_014334.4(FRRS1L):c.782A>T (p.Asp261Val)	FRRS1L (D261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 575240	NM_014334.4(FRRS1L):c.774G>C (p.Lys258Asn)	FRRS1L (K258N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 741854	NM_014334.4(FRRS1L):c.771C>T (p.Tyr257=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1554909	NM_014334.4(FRRS1L):c.768T>C (p.Ile256=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 651686	NM_014334.4(FRRS1L):c.757G>A (p.Val253Ile)	FRRS1L (V253I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 847412	NM_014334.4(FRRS1L):c.755G>A (p.Arg252His)	FRRS1L (R252H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance
Select item 1023679	NM_014334.4(FRRS1L):c.754C>T (p.Arg252Cys)	FRRS1L (R252C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1723015	NM_014334.4(FRRS1L):c.745G>A (p.Ala249Thr)	FRRS1L (A249T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1087998	NM_014334.4(FRRS1L):c.744G>A (p.Pro248=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1368449	NM_014334.4(FRRS1L):c.743C>T (p.Pro248Leu)	FRRS1L (P248L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1086435	NM_014334.4(FRRS1L):c.741G>A (p.Pro247=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 649021	NM_014334.4(FRRS1L):c.740C>T (p.Pro247Leu)	FRRS1L (P247L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2886944	NM_014334.4(FRRS1L):c.735C>T (p.Asp245=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 542864	NM_014334.4(FRRS1L):c.732A>G (p.Ile244Met)	FRRS1L (I244M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 963399	NM_014334.4(FRRS1L):c.727G>C (p.Asp243His)	FRRS1L (D243H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2745526	NM_014334.4(FRRS1L):c.725A>G (p.His242Arg)	FRRS1L (H242R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2179692	NM_014334.4(FRRS1L):c.722G>T (p.Arg241Leu)	FRRS1L (R241L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 476309	NM_014334.4(FRRS1L):c.721C>T (p.Arg241Ter)	FRRS1L (R241*)	Single nucleotide variant (nonsense)	FRRS1L-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2787550	NM_014334.4(FRRS1L):c.717C>T (p.Ile239=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 951972	NM_014334.4(FRRS1L):c.716T>G (p.Ile239Ser)	FRRS1L (I239S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1510782	NM_014334.4(FRRS1L):c.713C>G (p.Ser238Cys)	FRRS1L (S238C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 542877	NM_014334.4(FRRS1L):c.710-4A>C	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37 +1 more	GBenign/Likely benign
Select item 1590794	NM_014334.4(FRRS1L):c.710-7C>G	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1099878	NM_014334.4(FRRS1L):c.710-8T>C	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2755685	NM_014334.4(FRRS1L):c.710-20C>T	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2131740	NM_014334.4(FRRS1L):c.710-21_710-20delinsCA	FRRS1L	Indel (intron variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1247367	NM_014334.4(FRRS1L):c.710-21T>C	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37 +1 more	GBenign
Select item 1296262	NM_014334.4(FRRS1L):c.709+274G>A	FRRS1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216359	NM_014334.4(FRRS1L):c.709+39_709+40del	FRRS1L	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2808534	NM_014334.4(FRRS1L):c.709+19A>G	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1012838	NM_014334.4(FRRS1L):c.709+2T>G	FRRS1L	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 944805	NM_014334.4(FRRS1L):c.709G>A (p.Gly237Ser)	FRRS1L (G237S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 654448	NM_014334.4(FRRS1L):c.708G>A (p.Gln236=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 476308	NM_014334.4(FRRS1L):c.708G>T (p.Gln236His)	FRRS1L (Q236H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 218152	NM_014334.4(FRRS1L):c.692G>A (p.Trp231Ter)	FRRS1L (W231*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 2883216	NM_014334.4(FRRS1L):c.690T>C (p.Ala230=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1058988	NM_014334.4(FRRS1L):c.689C>T (p.Ala230Val)	FRRS1L (A230V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 842029	NM_014334.4(FRRS1L):c.688G>T (p.Ala230Ser)	FRRS1L (A230S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1082569	NM_014334.4(FRRS1L):c.678T>C (p.Tyr226=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 3065482	NM_014334.4(FRRS1L):c.674G>T (p.Trp225Leu)	FRRS1L (W225L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2752093	NM_014334.4(FRRS1L):c.663G>A (p.Leu221=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2833770	NM_014334.4(FRRS1L):c.661C>T (p.Leu221=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1983727	NM_014334.4(FRRS1L):c.660T>C (p.Asp220=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2097527	NM_014334.4(FRRS1L):c.658G>C (p.Asp220His)	FRRS1L (D220H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1551160	NM_014334.4(FRRS1L):c.654T>C (p.Ile218=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1385774	NM_014334.4(FRRS1L):c.650C>G (p.Thr217Arg)	FRRS1L (T217R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 856580	NM_014334.4(FRRS1L):c.641G>A (p.Arg214Lys)	FRRS1L (R214K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1041525	NM_014334.4(FRRS1L):c.637C>T (p.Pro213Ser)	FRRS1L (P213S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1504367	NM_014334.4(FRRS1L):c.626C>T (p.Pro209Leu)	FRRS1L (P209L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1106967	NM_014334.4(FRRS1L):c.624C>A (p.Arg208=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 985563	NM_014334.4(FRRS1L):c.623G>A (p.Arg208His)	FRRS1L (R208H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1676128	NM_014334.4(FRRS1L):c.622C>A (p.Arg208Ser)	FRRS1L (R208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935338	NM_014334.4(FRRS1L):c.622C>T (p.Arg208Cys)	FRRS1L (R208C)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 2698820	NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePhePhePhePhePhePhePheXaaXaaThrSerTer)	FRRS1L	Insertion (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 1076371	NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTNNNNNNNNNNGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	FRRS1L	Insertion (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 754221	NM_014334.4(FRRS1L):c.606C>T (p.Val202=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 569298	NM_014334.4(FRRS1L):c.604G>A (p.Val202Ile)	FRRS1L (V202I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance
Select item 1608107	NM_014334.4(FRRS1L):c.603C>T (p.Arg201=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 839153	NM_014334.4(FRRS1L):c.602G>T (p.Arg201Leu)	FRRS1L (R201L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 565887	NM_014334.4(FRRS1L):c.602G>A (p.Arg201His)	FRRS1L (R201H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance

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