ClinVar for Gene (Select 100129924) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179401	NM_001354602.2(TMEM269):c.301A>G (p.Lys101Glu)	TMEM269 (K101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179400	NM_001354602.2(TMEM269):c.278C>T (p.Ser93Leu)	TMEM269 (S93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179399	NM_001354602.2(TMEM269):c.2T>A (p.Met1Lys)	TMEM269 (M1K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	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

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