ClinVar for Gene (Select 23732) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361684	NM_014334.4(FRRS1L):c.771C>G (p.Tyr257Ter)	FRRS1L (Y257*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3279953	NM_014334.4(FRRS1L):c.-75G>A	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3245318	NC_000009.11:g.(?_111631395)_(111929571_?)del	TMEM245, ABITRAM +4 more	Deletion	not provided	GPathogenic
Select item 3245268	NC_000009.11:g.(?_111899735)_(111912020_?)dup	FRRS1L	Duplication	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 3245267	NC_000009.11:g.(?_111899735)_(111929571_?)del	FRRS1L	Deletion	Developmental and epileptic encephalopathy, 37	GPathogenic
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 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 3063113	GRCh37/hg19 9q31.3(chr9:111638923-112074439)x3	ABITRAM, CTNNAL1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3023990	NC_000009.12:g.109167277C>T	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2995050	NM_014334.4(FRRS1L):c.-88T>C	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2968311	NM_014334.4(FRRS1L):c.462+8G>A	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2919547	NM_014334.4(FRRS1L):c.477C>T (p.Val159=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2910794	NM_014334.4(FRRS1L):c.462+18A>G	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2897003	NM_014334.4(FRRS1L):c.-107C>A	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	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 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 2880717	NM_014334.4(FRRS1L):c.117C>G (p.Gly39=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2876130	NM_014334.4(FRRS1L):c.195C>T (p.Thr65=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2865982	NM_014334.4(FRRS1L):c.323+19T>C	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2851391	NM_014334.4(FRRS1L):c.324-12T>C	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2844570	NM_014334.4(FRRS1L):c.201G>T (p.Ala67=)	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 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 2808534	NM_014334.4(FRRS1L):c.709+19A>G	FRRS1L	Single nucleotide variant (intron 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 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 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 2780800	NM_014334.4(FRRS1L):c.-43C>G	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
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 2755685	NM_014334.4(FRRS1L):c.710-20C>T	FRRS1L	Single nucleotide variant (intron 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 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 2741535	NM_014334.4(FRRS1L):c.90C>G (p.Pro30=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2735319	NM_014334.4(FRRS1L):c.310A>G (p.Lys104Glu)	FRRS1L (K104E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GLikely pathogenic
Select item 2729189	NM_014334.4(FRRS1L):c.165G>T (p.Ala55=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2726892	NM_014334.4(FRRS1L):c.323+17G>T	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2718250	NM_014334.4(FRRS1L):c.462+12A>G	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2713854	NM_014334.4(FRRS1L):c.323+15A>T	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2709537	NM_014334.4(FRRS1L):c.189C>G (p.Tyr63Ter)	FRRS1L (Y63*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
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 2698820	NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePhePhePhePhePhePhePheXaaXaaThrSerTer)	FRRS1L	Insertion (nonsense)	Developmental and epileptic encephalopathy, 37	GPathogenic
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 2487730	NM_014334.4(FRRS1L):c.346G>T (p.Ala116Ser)	FRRS1L (A116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482555	NM_014334.4(FRRS1L):c.25C>G (p.Pro9Ala)	FRRS1L (P9A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446016	NM_014334.4(FRRS1L):c.552_561del (p.Ile185fs)	FRRS1L (I185fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 2441586	NM_014334.4(FRRS1L):c.407T>G (p.Leu136Arg)	FRRS1L (L136R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2440332	NM_014334.4(FRRS1L):c.69del (p.Ala24fs)	FRRS1L (A24fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 37	GLikely pathogenic
Select item 2428359	NM_014334.4(FRRS1L):c.144G>A (p.Gly48=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2423567	NM_014334.4(FRRS1L):c.71C>T (p.Ala24Val)	FRRS1L (A24V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2421915	NM_014334.4(FRRS1L):c.463-15C>A	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2421881	NM_014334.4(FRRS1L):c.16C>G (p.Arg6Gly)	FRRS1L (R6G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2421224	NM_014334.4(FRRS1L):c.92C>T (p.Ala31Val)	FRRS1L (A31V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2418091	NM_014334.4(FRRS1L):c.-2G>A	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2287437	NM_014334.4(FRRS1L):c.109C>G (p.Pro37Ala)	FRRS1L (P37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252908	NM_014334.3(FRRS1L):c.7A>G (p.Arg3Gly)	FRRS1L (R3G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244375	NM_014334.4(FRRS1L):c.-44C>G	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2201429	NM_014334.4(FRRS1L):c.-49C>T	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2200398	NM_014334.4(FRRS1L):c.238+20A>T	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2198624	NC_000009.12:g.109167264C>A	FRRS1L (G10C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2181624	NM_014334.4(FRRS1L):c.231G>T (p.Ser77=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
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 2164719	NM_014334.4(FRRS1L):c.201G>A (p.Ala67=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2145403	NM_014334.4(FRRS1L):c.324-15C>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 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 2117412	NM_014334.4(FRRS1L):c.41C>T (p.Ser14Leu)	FRRS1L (S14L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2117396	NM_014334.4(FRRS1L):c.463-3T>G	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2114400	NM_014334.4(FRRS1L):c.236A>C (p.Glu79Ala)	FRRS1L (E79A)	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 2110603	NM_014334.4(FRRS1L):c.-64G>A	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2105649	NM_014334.4(FRRS1L):c.58C>A (p.Leu20Met)	FRRS1L (L20M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
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 2103045	NC_000009.12:g.109167259C>G	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2100471	NM_014334.4(FRRS1L):c.-35_-16del	FRRS1L	Deletion (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GPathogenic
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 2096908	NM_014334.4(FRRS1L):c.239-12C>T	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2096674	NM_014334.4(FRRS1L):c.207G>A (p.Glu69=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2096124	NM_014334.4(FRRS1L):c.453C>A (p.Asp151Glu)	FRRS1L (D151E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2092965	NM_014334.4(FRRS1L):c.94G>A (p.Asp32Asn)	FRRS1L (D32N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2092480	NM_014334.4(FRRS1L):c.383T>C (p.Ile128Thr)	FRRS1L (I128T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2079029	NM_014334.4(FRRS1L):c.-45C>T	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2065869	NM_014334.4(FRRS1L):c.239-4C>T	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2050971	NM_014334.4(FRRS1L):c.57A>G (p.Leu19=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2042647	NM_014334.4(FRRS1L):c.265G>C (p.Val89Leu)	FRRS1L (V89L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2041632	NM_014334.4(FRRS1L):c.244C>G (p.Pro82Ala)	FRRS1L (P82A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2031338	NM_014334.4(FRRS1L):c.-70A>T	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2023000	NM_014334.4(FRRS1L):c.238+10C>T	FRRS1L	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2020001	NM_014334.4(FRRS1L):c.377G>A (p.Arg126Gln)	FRRS1L (R126Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2018942	NC_000009.12:g.109167280C>G	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 2015630	NM_014334.4(FRRS1L):c.-95G>A	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2013100	NM_014334.4(FRRS1L):c.463G>A (p.Gly155Ser)	FRRS1L (G155S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2007643	NM_014334.4(FRRS1L):c.475G>A (p.Val159Ile)	FRRS1L (V159I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 2001741	NM_014334.4(FRRS1L):c.288A>G (p.Lys96=)	FRRS1L	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 37	GLikely benign
Select item 1997044	NM_014334.3(FRRS1L):c.25delG (p.Gly10Valfs)	FRRS1L	Deletion (frameshift variant)	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 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 1958924	NM_014334.4(FRRS1L):c.191G>A (p.Gly64Asp)	FRRS1L (G64D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1956025	NM_014334.4(FRRS1L):c.-96C>G	FRRS1L	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 1949797	NM_014334.4(FRRS1L):c.101G>A (p.Gly34Asp)	FRRS1L (G34D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 37	GUncertain significance

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