MAPK13[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 2326934	NM_002754.5(MAPK13):c.11T>G (p.Ile4Ser)	LOC129996270, MAPK13 (I4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329682	NM_002754.5(MAPK13):c.115G>A (p.Val39Met)	MAPK13 (V39M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775077	NM_002754.5(MAPK13):c.122C>T (p.Ser41Leu)	MAPK13 (S41L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2376439	NM_002754.5(MAPK13):c.188A>G (p.Glu63Gly)	MAPK13 (E63G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332794	NM_002754.5(MAPK13):c.217C>G (p.Leu73Val)	MAPK13 (L73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123233	NM_002754.5(MAPK13):c.259C>T (p.Leu87Phe)	MAPK13 (L87F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356627	NM_002754.5(MAPK13):c.277C>T (p.Pro93Ser)	MAPK13 (P93S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123234	NM_002754.5(MAPK13):c.335C>T (p.Thr112Met)	MAPK13 (T112M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785169	NM_002754.5(MAPK13):c.336G>A (p.Thr112=)	MAPK13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2380589	NM_002754.5(MAPK13):c.439G>A (p.Val147Met)	MAPK13 (V147M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594620	NM_002754.5(MAPK13):c.460G>A (p.Gly154Ser)	MAPK13 (G154S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789745	NM_002754.5(MAPK13):c.496-3T>C	MAPK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2245231	NM_002754.5(MAPK13):c.508G>A (p.Gly170Arg)	MAPK13 (G170R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332795	NM_002754.5(MAPK13):c.574G>A (p.Glu192Lys)	MAPK13 (E192K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123236	NM_002754.5(MAPK13):c.753C>A (p.Asn251Lys)	MAPK13 (N251K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123237	NM_002754.5(MAPK13):c.754G>A (p.Asp252Asn)	MAPK13 (D252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656513	NM_002754.5(MAPK13):c.843T>G (p.Ala281=)	MAPK13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2385942	NM_002754.5(MAPK13):c.887G>A (p.Arg296His)	MAPK13 (R296H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123238	NM_002754.5(MAPK13):c.929C>T (p.Pro310Leu)	MAPK13 (P310L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309256	NM_002754.5(MAPK13):c.929C>A (p.Pro310His)	MAPK13 (P310H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123239	NM_002754.5(MAPK13):c.990C>G (p.His330Gln)	MAPK13 (H330Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225306	NM_002754.5(MAPK13):c.1060C>T (p.Arg354Trp)	MAPK13 (R354W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123232	NM_002754.5(MAPK13):c.1084G>A (p.Gly362Ser)	MAPK13 (G362S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	CPNE5, C6orf89 +18 more	Deletion	not provided	GPathogenic
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

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Items: 33