LOC126805720[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2570722	NM_005424.5(TIE1):c.3137T>C (p.Ile1046Thr)	LOC126805720, TIE1 (I1001T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2512122	NM_005424.5(TIE1):c.3260G>A (p.Arg1087His)	LOC126805720, TIE1 (R1042H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177422	NM_005424.5(TIE1):c.3277C>T (p.Arg1093Cys)	LOC126805720, TIE1 (R1093C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174133	NM_005424.5(TIE1):c.3326G>A (p.Arg1109His)	LOC126805720, TIE1 (R1064H +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 11	GPathogenic

ClinVar