MAPK14[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 2603503	NM_139012.3(MAPK14):c.299A>G (p.Asn100Ser)	MAPK14 (N100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123243	NM_139012.3(MAPK14):c.434A>G (p.Asp145Gly)	MAPK14 (D145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480020	NM_139012.3(MAPK14):c.763-2356G>A	MAPK14 (R237H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123244	NM_139012.3(MAPK14):c.763-2341C>G	MAPK14 (P242R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123245	NM_139012.3(MAPK14):c.894A>G (p.Thr298=)	MAPK14 (Q272R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 782474	NM_139012.3(MAPK14):c.936C>T (p.His312=)	MAPK14 (T286M)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3123240	NM_139012.3(MAPK14):c.1027G>A (p.Asp343Asn)	MAPK14 (D343N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123242	NM_139012.3(MAPK14):c.1037T>G (p.Ile346Ser)	MAPK14 (I346S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic