"Center for Statistical Genetics, Columbia University"[submitter] AND - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 848063	NM_001348768.2(HECW2):c.4511C>A (p.Ser1504Tyr)	HECW2 (S1148Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GLikely pathogenic
Select item 1027616	NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala)	HECW2 (T1147A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1027615	NM_001348768.2(HECW2):c.4355G>T (p.Gly1452Val)	HECW2 (G1096V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1027614	NM_001348768.2(HECW2):c.4333G>C (p.Glu1445Gln)	HECW2 (E1089Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GPathogenic
Select item 1027613	NM_001348768.2(HECW2):c.4323T>G (p.Phe1441Leu)	HECW2 (F1085L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 242318	NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)	HECW2 (R1330W +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder +3 more	GPathogenic
Select item 975711	NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)	HECW2 (F1327S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1027612	NM_001348768.2(HECW2):c.3597C>A (p.Asn1199Lys)	HECW2 (N1199K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 242317	NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)	HECW2 (R1191Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +2 more	GPathogenic
Select item 1027611	NM_001348768.2(HECW2):c.3175C>T (p.Pro1059Ser)	HECW2 (P1059S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1027610	NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr)	HECW2 (A584T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GUncertain significance
Select item 1027609	NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His)	HECW2 (Y507H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GLikely pathogenic
Select item 1027608	NM_001348768.2(HECW2):c.951G>T (p.Gln317His)	HECW2 (Q317H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1027607	NM_001348768.2(HECW2):c.412A>G (p.Ile138Val)	HECW2 (I138V)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic