"Revvity Omics, Revvity"[submitter] AND "HECW2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2318091	NM_001348768.2(HECW2):c.4280G>A (p.Arg1427His)	HECW2 (R1427H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2432407	NM_001348768.2(HECW2):c.3556C>T (p.Pro1186Ser)	HECW2 (P1186S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432403	NM_001348768.2(HECW2):c.3288A>T (p.Glu1096Asp)	HECW2 (E1096D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2231315	NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)	HECW2 (R695Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +2 more	GConflicting classifications of pathogenicity
Select item 2432396	NM_001348768.2(HECW2):c.3083C>T (p.Ala1028Val)	HECW2 (A1028V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432399	NM_001348768.2(HECW2):c.2824C>T (p.Arg942Cys)	HECW2 (R586C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432398	NM_001348768.2(HECW2):c.2311A>G (p.Thr771Ala)	HECW2 (T415A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432402	NM_001348768.2(HECW2):c.2294G>A (p.Gly765Asp)	HECW2 (G409D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432401	NM_001348768.2(HECW2):c.1793C>T (p.Thr598Ile)	HECW2 (T242I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432400	NM_001348768.2(HECW2):c.1655G>A (p.Gly552Asp)	HECW2 (G196D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432408	NM_001348768.2(HECW2):c.1511C>A (p.Ser504Tyr)	HECW2 (S148Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432397	NM_001348768.2(HECW2):c.983A>C (p.Glu328Ala)	HECW2 (E328A)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2348946	NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln)	HECW2 (R291Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2432405	NM_001348768.2(HECW2):c.860G>C (p.Arg287Thr)	HECW2 (R287T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432404	NM_001348768.2(HECW2):c.643C>T (p.Pro215Ser)	HECW2 (P215S)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432406	NM_001348768.2(HECW2):c.201G>C (p.Glu67Asp)	HECW2 (E67D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance