C0239842[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523482	NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	GLI2 (T882S +2 more)	Single nucleotide variant (missense variant)	Arteriovenous malformation +10 more	GUncertain significance
Select item 523543	NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)	ADGRV1 (I1730F)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation +3 more	GUncertain significance
Select item 523458	NM_001032221.6(STXBP1):c.360del (p.Lys120fs)	STXBP1 (K120fs +2 more)	Deletion (frameshift variant)	Macrocephaly +4 more	GPathogenic
Select item 374060	NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)	ATP7B (G988E +4 more)	Single nucleotide variant (missense variant)	Hand tremor +2 more	GLikely pathogenic
Select item 523531	NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)	CACNA1H (S2295F +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation +6 more	GConflicting classifications of pathogenicity
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	ANKRD11-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 523550	NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe)	SHANK3 (S1026F +1 more)	Single nucleotide variant (missense variant)	Macrocephaly +4 more	GUncertain significance
Select item 206353	NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)	PCDH19 (Y366fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 9 +12 more	GPathogenic