LEMD1-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 3118337	NM_001199050.2(LEMD1):c.520G>A (p.Val174Met)	LEMD1, LEMD1-AS1 (V133M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3118336	NM_001199050.2(LEMD1):c.414C>T (p.Cys138=)	LEMD1, LEMD1-AS1 (A50V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3118335	NM_001199050.2(LEMD1):c.380C>T (p.Thr127Ile)	LEMD1, LEMD1-AS1 (H39Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar