ClinVar for Gene (Select 100506411) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293098	NM_001284230.2(MAP3K9):c.193G>T (p.Ala65Ser)	MAP3K9, MAP3K9-DT (A65S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123048	NM_001284230.2(MAP3K9):c.61G>T (p.Gly21Trp)	LOC130056003, MAP3K9 +1 more (G21W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123046	NM_001284230.2(MAP3K9):c.359G>A (p.Arg120His)	MAP3K9, MAP3K9-DT (R120H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2644347	NM_001284230.2(MAP3K9):c.294G>A (p.Gln98=)	MAP3K9, MAP3K9-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2534270	NM_001284230.2(MAP3K9):c.56C>A (p.Pro19Gln)	LOC130056003, MAP3K9 +1 more (P19Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2534269	NM_001284230.2(MAP3K9):c.29G>C (p.Cys10Ser)	LOC130056003, MAP3K9 +1 more (C10S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513481	NM_001284230.2(MAP3K9):c.107A>C (p.Glu36Ala)	MAP3K9, MAP3K9-DT (E36A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2393769	NM_001284230.2(MAP3K9):c.370G>A (p.Gly124Ser)	MAP3K9, MAP3K9-DT (G124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244976	NM_001284230.2(MAP3K9):c.76G>A (p.Gly26Arg)	LOC130056003, MAP3K9 +1 more (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 147390	GRCh38/hg38 14q24.2(chr14:70752460-72490693)x3	LOC111811966, LOC121529652 +48 more	Copy number gain	See cases	GUncertain significance
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic