LOC126862278[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 59433	GRCh38/hg38 16p13.3-13.2(chr16:5589104-8091212)x1	LINC01570, LOC105371069 +22 more	Copy number loss	See cases	GPathogenic
Select item 59950	GRCh38/hg38 16p13.3(chr16:7503171-7752948)x3	LOC126862278, LOC126862279 +1 more	Copy number gain	See cases	GUncertain significance
Select item 654098	NC_000016.9:g.(?_7560981)_(7680705_?)dup	LOC126862278, RBFOX1	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 148344	GRCh38/hg38 16p13.3(chr16:7521663-7610894)x1	LOC126862278, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 2001642	NM_018723.4(RBFOX1):c.271-100_271-11del	LOC126862278, RBFOX1	Deletion (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2855888	NM_018723.4(RBFOX1):c.271-13C>T	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 761981	NM_018723.4(RBFOX1):c.271-4T>G	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 241957	NM_018723.4(RBFOX1):c.282C>T (p.Asp94=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3152106	NM_018723.4(RBFOX1):c.283G>A (p.Ala95Thr)	LOC126862278, RBFOX1 (A120T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758013	NM_018723.4(RBFOX1):c.285A>G (p.Ala95=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2760901	NM_018723.4(RBFOX1):c.289C>G (p.Pro97Ala)	LOC126862278, RBFOX1 (P296A +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2721767	NM_018723.4(RBFOX1):c.290C>A (p.Pro97Gln)	LOC126862278, RBFOX1 (P133Q +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 565813	NM_018723.4(RBFOX1):c.290C>T (p.Pro97Leu)	LOC126862278, RBFOX1 (P117L +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1670504	NM_018723.4(RBFOX1):c.291G>A (p.Pro97=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1017747	NM_018723.4(RBFOX1):c.292A>G (p.Thr98Ala)	LOC126862278, RBFOX1 (T118A +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 529521	NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met)	LOC126862278, RBFOX1 (T118M +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2721445	NM_018723.4(RBFOX1):c.294G>A (p.Thr98=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1134682	NM_018723.4(RBFOX1):c.294G>C (p.Thr98=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2710771	NM_018723.4(RBFOX1):c.295G>A (p.Asp99Asn)	LOC126862278, RBFOX1 (D142N +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2172393	NM_018723.4(RBFOX1):c.297T>C (p.Asp99=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1612827	NM_018723.4(RBFOX1):c.303G>A (p.Gln101=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1059635	NM_018723.4(RBFOX1):c.305C>T (p.Pro102Leu)	LOC126862278, RBFOX1 (P102L +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2646177	NM_018723.4(RBFOX1):c.309G>A (p.Gln103=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807840	NM_018723.4(RBFOX1):c.311C>G (p.Thr104Arg)	LOC126862278, RBFOX1 (T124R +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 841306	NM_018723.4(RBFOX1):c.320C>T (p.Ser107Phe)	LOC126862278, RBFOX1 (S150F +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 666203	NM_018723.4(RBFOX1):c.322G>C (p.Glu108Gln)	LOC126862278, RBFOX1 (E108Q +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2918605	NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 3313132	NM_018723.4(RBFOX1):c.329C>G (p.Thr110Arg)	LOC126862278, RBFOX1 (T130R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 939071	NM_018723.4(RBFOX1):c.329C>T (p.Thr110Met)	LOC126862278, RBFOX1 (T130M +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 961204	NM_018723.4(RBFOX1):c.330G>A (p.Thr110=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 415961	NM_018723.4(RBFOX1):c.333A>G (p.Glu111=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2457832	NM_018723.4(RBFOX1):c.339G>C (p.Lys113Asn)	LOC126862278, RBFOX1 (K133N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758550	NM_018723.4(RBFOX1):c.339G>A (p.Lys113=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1024254	NM_018723.4(RBFOX1):c.347C>T (p.Pro116Leu)	LOC126862278, RBFOX1 (P116L +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 383748	NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln)	LOC126862278, RBFOX1 (R118Q +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 529537	NM_018723.4(RBFOX1):c.354G>A (p.Arg118=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GBenign
Select item 1078426	NM_018723.4(RBFOX1):c.357G>C (p.Leu119=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1544878	NM_018723.4(RBFOX1):c.360T>C (p.His120=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2320009	NM_018723.4(RBFOX1):c.386G>C (p.Arg129Pro)	LOC126862278, RBFOX1 (R129P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2128390	NM_018723.4(RBFOX1):c.386G>A (p.Arg129Gln)	LOC126862278, RBFOX1 (R165Q +6 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 529533	NM_018723.4(RBFOX1):c.387G>C (p.Arg129=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 836134	NM_018723.4(RBFOX1):c.393G>A (p.Pro131=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1056357	NM_018723.4(RBFOX1):c.396C>A (p.Asp132Glu)	LOC126862278, RBFOX1 (D132E +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2704749	NM_018723.4(RBFOX1):c.400A>T (p.Arg134Ter)	LOC126862278, RBFOX1 (R154* +6 more)	Single nucleotide variant (nonsense)	Idiopathic generalized epilepsy	GUncertain significance
Select item 451041	NM_018723.4(RBFOX1):c.403C>T (p.Gln135Ter)	LOC126862278, RBFOX1 (Q135* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2631097	NM_018723.4(RBFOX1):c.404A>T (p.Gln135Leu)	LOC126862278, RBFOX1 (Q135L +6 more)	Single nucleotide variant (missense variant)	RBFOX1-related disorder	GUncertain significance
Select item 998154	NM_018723.4(RBFOX1):c.406del (p.Met136fs)	LOC126862278, RBFOX1 (M136fs +2 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 1008902	NM_018723.4(RBFOX1):c.413G>C (p.Gly138Ala)	LOC126862278, RBFOX1 (G138A +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 1523780	NM_018723.4(RBFOX1):c.414+5G>A	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GUncertain significance
Select item 2724967	NM_018723.4(RBFOX1):c.414+16C>A	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 2785209	NM_018723.4(RBFOX1):c.414+20C>G	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign
Select item 1637435	NM_018723.4(RBFOX1):c.414+20C>A	LOC126862278, RBFOX1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy	GLikely benign

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Items: 57