MAP3K5-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 149759	GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4	IFNGR1, IL20RA +72 more	Copy number gain	See cases	GLikely benign
Select item 2280679	NM_005923.4(MAP3K5):c.1979G>A (p.Ser660Asn)	MAP3K5, MAP3K5-AS1 (S660N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122979	NM_005923.4(MAP3K5):c.1972G>A (p.Gly658Arg)	MAP3K5, MAP3K5-AS1 (G658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775243	NM_005923.4(MAP3K5):c.1838+9C>T	MAP3K5, MAP3K5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2398223	NM_005923.4(MAP3K5):c.1814G>T (p.Ser605Ile)	MAP3K5, MAP3K5-AS1 (S605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar