MAP2K4[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 2237579	NM_003010.4(MAP2K4):c.14G>T (p.Ser5Ile)	MAP2K4, ZNF18 (S5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347490	NM_003010.4(MAP2K4):c.16C>G (p.Pro6Ala)	MAP2K4, ZNF18 (P6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354917	NM_003010.4(MAP2K4):c.25G>C (p.Gly9Arg)	MAP2K4, ZNF18 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343705	NM_003010.4(MAP2K4):c.25G>A (p.Gly9Ser)	MAP2K4, ZNF18 (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514798	NM_003010.4(MAP2K4):c.43G>A (p.Gly15Ser)	MAP2K4, ZNF18 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352459	NM_003010.4(MAP2K4):c.59C>T (p.Thr20Ile)	MAP2K4, ZNF18 (T20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122782	NM_003010.4(MAP2K4):c.67C>A (p.Pro23Thr)	MAP2K4, ZNF18 (P23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340341	NM_003010.4(MAP2K4):c.70G>A (p.Val24Ile)	MAP2K4, ZNF18 (V24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122781	NM_003010.4(MAP2K4):c.188C>A (p.Pro63His)	MAP2K4 (P74H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616229	NM_003010.4(MAP2K4):c.265A>C (p.Ile89Leu)	MAP2K4 (I100L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237279	NM_003010.4(MAP2K4):c.357G>T (p.Met119Ile)	MAP2K4 (M119I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 438770	NM_003010.4(MAP2K4):c.538C>G (p.Leu180Val)	MAP2K4 (L191V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 3258038	NM_003010.4(MAP2K4):c.551C>T (p.Ser184Leu)	MAP2K4 (S184L +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
Select item 2518044	NM_003010.4(MAP2K4):c.572A>G (p.Tyr191Cys)	MAP2K4 (Y191C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241974	NM_003010.4(MAP2K4):c.868G>A (p.Val290Ile)	MAP2K4 (V290I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252066	NM_003010.4(MAP2K4):c.947A>T (p.Gln316Leu)	MAP2K4 (Q316L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1339354	NM_003010.4(MAP2K4):c.1087-1G>C	MAP2K4	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 2278019	NM_003010.4(MAP2K4):c.1141G>A (p.Val381Ile)	MAP2K4 (V381I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 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 221531	GRCh37/hg19 17p12(chr17:11887472-12044521)x3	MAP2K4, ZNF18	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 30