C0543888[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267739	NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs)	HNRNPU (P738fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 267737	NM_031844.3(HNRNPU):c.1714C>T (p.Arg572Ter)	HNRNPU (R572* +1 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy +2 more	GPathogenic
Select item 267736	NM_031844.3(HNRNPU):c.1089G>A (p.Trp363Ter)	HNRNPU (W363* +1 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GPathogenic
Select item 267738	NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)	HNRNPU (G218fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 375510	NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)	SCN2A (V251I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 196039	NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)	SCN2A (R1882Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GPathogenic/Likely pathogenic
Select item 530487	NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)	LOC102724058, SCN1A (S1335P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 374260	NM_022042.4(SLC26A1):c.1487T>G (p.Leu496Arg)	IDUA, SLC26A1 (L496R)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GUncertain significance
Select item 441275	NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)	PPP3CA (E282K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	Abnormality of the nervous system +9 more	GConflicting classifications of pathogenicity
Select item 207429	NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	STXBP1 (R367* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability +7 more	GPathogenic
Select item 207431	NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	STXBP1 (R406C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 53	NM_152269.5(MTRFR):c.248del (p.Val83fs)	MTRFR (V83fs)	Deletion (frameshift variant)	Abnormal brain morphology +2 more	GPathogenic/Likely pathogenic
Select item 188802	NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	ATP7B (A1003T +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 458712	NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	POLG (R1081Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GConflicting classifications of pathogenicity
Select item 633624	NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe)	KCNB1 (V349F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GPathogenic
Select item 475255	NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)	KCNB1 (S347R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GPathogenic
Select item 21769	NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)	KCNQ2 (R581Q +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 369770	NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)	KCNQ2 (G301S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +3 more	GPathogenic