6847[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 2274348	NM_145185.4(MAP2K7):c.35G>T (p.Arg12Leu)	MAP2K7 (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330960	NM_145185.4(MAP2K7):c.155G>T (p.Gly52Val)	MAP2K7 (G68V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122789	NM_145185.4(MAP2K7):c.164C>T (p.Ser55Leu)	MAP2K7 (S55L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324159	NM_145185.4(MAP2K7):c.200C>T (p.Pro67Leu)	MAP2K7 (P67L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122790	NM_145185.4(MAP2K7):c.251C>T (p.Pro84Leu)	MAP2K7 (P84L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537381	NM_145185.4(MAP2K7):c.253C>T (p.Arg85Cys)	MAP2K7 (R101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777407	NM_145185.4(MAP2K7):c.393C>T (p.Cys131=)	MAP2K7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3122791	NM_145185.4(MAP2K7):c.418C>T (p.Arg140Trp)	MAP2K7 (R183W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555908	NM_145185.4(MAP2K7):c.427G>A (p.Gly143Ser)	MAP2K7 (G159S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347560	NM_145185.4(MAP2K7):c.566A>G (p.Asn189Ser)	MAP2K7 (N205S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710676	NM_145185.4(MAP2K7):c.606C>T (p.Cys202=)	MAP2K7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374336	NM_145185.4(MAP2K7):c.626G>A (p.Arg209Gln)	MAP2K7 (R209Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717082	NM_145185.4(MAP2K7):c.645C>T (p.Pro215=)	MAP2K7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710280	NM_145185.4(MAP2K7):c.645C>A (p.Pro215=)	MAP2K7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2550876	NM_145185.4(MAP2K7):c.649C>T (p.Arg217Cys)	MAP2K7 (R233C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285309	NM_145185.4(MAP2K7):c.650G>A (p.Arg217His)	MAP2K7 (R260H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 438771	NM_145185.4(MAP2K7):c.752T>C (p.Leu251Pro)	MAP2K7 (L251P +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 2408778	NM_145185.4(MAP2K7):c.761G>A (p.Arg254Gln)	MAP2K7 (R297Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734209	NM_145185.4(MAP2K7):c.795C>T (p.Ser265=)	MAP2K7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777408	NM_145185.4(MAP2K7):c.831C>T (p.Ser277=)	MAP2K7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777052	NM_145185.4(MAP2K7):c.855+10G>C	MAP2K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243653	NM_145185.4(MAP2K7):c.856-19T>C	MAP2K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 750380	NM_145185.4(MAP2K7):c.856-9C>G	MAP2K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222270	NM_145185.4(MAP2K7):c.856-8C>G	MAP2K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2528913	NM_145185.4(MAP2K7):c.928A>G (p.Ile310Val)	MAP2K7 (I310V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717113	NM_145185.4(MAP2K7):c.1079+9C>T	MAP2K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2649185	NM_145185.4(MAP2K7):c.1080-4C>G	MAP2K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2314510	NM_145185.4(MAP2K7):c.1114A>G (p.Asn372Asp)	MAP2K7 (N388D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292980	NM_145185.4(MAP2K7):c.1172C>T (p.Ala391Val)	MAP2K7 (A391V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596932	NM_145185.4(MAP2K7):c.1202C>T (p.Thr401Ile)	MAP2K7 (T408I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715594	NM_145185.4(MAP2K7):c.1212G>T (p.Pro404=)	MAP2K7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2296381	NM_145185.4(MAP2K7):c.1214G>A (p.Arg405Gln)	MAP2K7 (R421Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348110	NM_145185.4(MAP2K7):c.1232G>T (p.Ser411Ile)	MAP2K7 (S411I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292981	NM_145185.4(MAP2K7):c.1238C>T (p.Pro413Leu)	MAP2K7 (P413L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 43