LOC129994023[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153044	GRCh38/hg38 5q13.2(chr5:71915937-72562961)x3	LOC102503427, LOC113002591 +18 more	Copy number gain	See cases	GUncertain significance
Select item 1723289	NM_005909.5(MAP1B):c.1573G>A (p.Val525Met)	LOC129994023, MAP1B (V399M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3122696	NM_005909.5(MAP1B):c.1582C>T (p.Pro528Ser)	LOC129994023, MAP1B (P402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433632	NM_005909.5(MAP1B):c.1591A>G (p.Lys531Glu)	LOC129994023, MAP1B (K405E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548633	NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter)	LOC129994023, MAP1B (Q532* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9 +1 more	GPathogenic/Likely pathogenic
Select item 3049795	NM_005909.5(MAP1B):c.1624C>T (p.Arg542Ter)	LOC129994023, MAP1B (R416* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic