MAP2K6[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	LOC129390924, LOC129390925 +59 more	Copy number loss	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 2528375	NM_002758.4(MAP2K6):c.82A>G (p.Thr28Ala)	MAP2K6 (T28A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481657	NM_002758.4(MAP2K6):c.166A>G (p.Ile56Val)	MAP2K6 (I56V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292979	NM_002758.4(MAP2K6):c.200T>C (p.Val67Ala)	MAP2K6 (V11A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122788	NM_002758.4(MAP2K6):c.430A>G (p.Ile144Val)	MAP2K6 (I144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249840	NM_002758.4(MAP2K6):c.556C>G (p.Leu186Val)	MAP2K6 (L186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538394	NM_002758.4(MAP2K6):c.568C>A (p.Leu190Ile)	MAP2K6 (L190I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347057	NM_002758.4(MAP2K6):c.761G>A (p.Arg254Gln)	MAP2K6 (R198Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549120	NM_002758.4(MAP2K6):c.820C>T (p.Pro274Ser)	MAP2K6 (P218S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815948	GRCh37/hg19 17q24.3(chr17:67426611-67633034)x1	MAP2K6	Copy number loss	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA10, ABCA5 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 21