"Invitae"[submitter] AND "FRRS1L"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 847412	NM_014334.4(FRRS1L):c.755G>A (p.Arg252His)	FRRS1L (R252H)	Single nucleotide variant (missense variant)	not provided +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 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)	Developmental and epileptic encephalopathy, 37	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 condition +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 2808534	NM_014334.4(FRRS1L):c.709+19A>G	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
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 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)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance
Select item 935338	NM_014334.4(FRRS1L):c.622C>T (p.Arg208Cys)	FRRS1L (R208C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +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)	not provided +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
Select item 2122691	NM_014334.4(FRRS1L):c.601C>G (p.Arg201Gly)	FRRS1L (R201G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1015647	NM_014334.4(FRRS1L):c.601C>T (p.Arg201Cys)	FRRS1L (R201C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 662348	NM_014334.4(FRRS1L):c.599A>G (p.Asn200Ser)	FRRS1L (N200S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance
Select item 2800879	NM_014334.4(FRRS1L):c.597C>T (p.Asn199=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 542874	NM_014334.4(FRRS1L):c.589T>G (p.Phe197Val)	FRRS1L (F197V)	Single nucleotide variant (missense variant)	Seizure +2 more	GUncertain significance
Select item 218153	NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	FRRS1L (G195del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 37 +1 more	GPathogenic/Likely pathogenic
Select item 951389	NM_014334.4(FRRS1L):c.583G>T (p.Gly195Ter)	FRRS1L (G195*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 1452447	NM_014334.4(FRRS1L):c.564_576del (p.Asn188fs)	FRRS1L (N188fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 952733	NM_014334.4(FRRS1L):c.568del (p.Ala190fs)	FRRS1L (A190fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 1071396	NM_014334.4(FRRS1L):c.566del (p.Pro189fs)	FRRS1L (P189fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 37 +1 more	GPathogenic/Likely pathogenic
Select item 1505849	NM_014334.4(FRRS1L):c.565C>T (p.Pro189Ser)	FRRS1L (P189S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1154962	NM_014334.4(FRRS1L):c.561A>G (p.Arg187=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 542872	NM_014334.4(FRRS1L):c.556C>G (p.Gln186Glu)	FRRS1L (Q186E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1561068	NM_014334.4(FRRS1L):c.555T>C (p.Ile185=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1041377	NM_014334.4(FRRS1L):c.550G>A (p.Glu184Lys)	FRRS1L (E184K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2776353	NM_014334.4(FRRS1L):c.547A>G (p.Lys183Glu)	FRRS1L (K183E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 542867	NM_014334.4(FRRS1L):c.544G>A (p.Ala182Thr)	FRRS1L (A182T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2704376	NM_014334.4(FRRS1L):c.542G>A (p.Trp181Ter)	FRRS1L (W181*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 476307	NM_014334.4(FRRS1L):c.533T>C (p.Val178Ala)	FRRS1L (V178A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GConflicting classifications of pathogenicity
Select item 760044	NM_014334.4(FRRS1L):c.531T>C (p.Asn177=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1000834	NM_014334.4(FRRS1L):c.521A>G (p.His174Arg)	FRRS1L (H174R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance
Select item 659759	NM_014334.4(FRRS1L):c.517C>T (p.Gln173Ter)	FRRS1L (Q173*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
Select item 1990020	NM_014334.4(FRRS1L):c.516A>G (p.Ile172Met)	FRRS1L (I172M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1514252	NM_014334.4(FRRS1L):c.512G>A (p.Arg171His)	FRRS1L (R171H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 849850	NM_014334.4(FRRS1L):c.512G>T (p.Arg171Leu)	FRRS1L (R171L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1520028	NM_014334.4(FRRS1L):c.501T>G (p.Asn167Lys)	FRRS1L (N167K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1161776	NM_014334.4(FRRS1L):c.498C>T (p.Asp166=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1582528	NM_014334.4(FRRS1L):c.492T>C (p.His164=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 476306	NM_014334.4(FRRS1L):c.487G>A (p.Val163Ile)	FRRS1L (V163I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37 +1 more	GUncertain significance

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