KEAP1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 773348	NM_203500.2(KEAP1):c.1855CAG[1] (p.Gln620del)	KEAP1 (Q620del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2253436	NM_203500.2(KEAP1):c.1780G>A (p.Val594Met)	KEAP1 (V594M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1300022	NM_203500.2(KEAP1):c.1709-1G>T	KEAP1	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1300232	NM_203500.2(KEAP1):c.1709-2A>C	KEAP1	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1321233	NM_203500.2(KEAP1):c.1708+2T>A	KEAP1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1299483	NM_203500.2(KEAP1):c.1708+1G>T	KEAP1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 2368710	NM_203500.2(KEAP1):c.1639G>C (p.Val547Leu)	KEAP1 (V547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755572	NM_203500.2(KEAP1):c.1587C>T (p.Asp529=)	KEAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716698	NM_203500.2(KEAP1):c.1524C>T (p.Ser508=)	KEAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244879	NM_203500.2(KEAP1):c.1495A>G (p.Met499Val)	KEAP1 (M499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113941	NM_203500.2(KEAP1):c.1493G>A (p.Arg498Gln)	KEAP1 (R498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235590	NM_203500.2(KEAP1):c.1455T>G (p.Asn485Lys)	KEAP1 (N485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616427	NM_203500.2(KEAP1):c.1423G>A (p.Val475Met)	KEAP1 (V475M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777416	NM_203500.2(KEAP1):c.1326-10G>A	KEAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2597738	NM_203500.2(KEAP1):c.1319T>C (p.Val440Ala)	KEAP1 (V440A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455415	NM_203500.2(KEAP1):c.1318G>A (p.Val440Met)	KEAP1 (V440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209515	NM_203500.2(KEAP1):c.1222C>A (p.Pro408Thr)	KEAP1 (P408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725487	NM_203500.2(KEAP1):c.1211C>T (p.Ser404Leu)	KEAP1 (S404L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649293	NM_203500.2(KEAP1):c.1152C>T (p.Pro384=)	KEAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722217	NM_203500.2(KEAP1):c.1116G>A (p.Gly372=)	KEAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455068	NM_203500.2(KEAP1):c.1111G>A (p.Gly371Ser)	KEAP1 (G371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726614	NM_203500.2(KEAP1):c.1106T>C (p.Val369Ala)	KEAP1 (V369A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2526861	NM_203500.2(KEAP1):c.992C>T (p.Ala331Val)	KEAP1 (A331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677306	NM_203500.2(KEAP1):c.814C>T (p.Arg272Cys)	KEAP1 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 694079	NM_203500.2(KEAP1):c.700C>T (p.Arg234Trp)	KEAP1 (R234W)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 2292548	NM_203500.2(KEAP1):c.667C>A (p.Leu223Met)	KEAP1 (L223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649294	NM_203500.2(KEAP1):c.471C>T (p.Asn157=)	KEAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204674	NM_203500.2(KEAP1):c.400G>A (p.Glu134Lys)	KEAP1 (E134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113942	NM_203500.2(KEAP1):c.184C>A (p.Gln62Lys)	KEAP1 (Q62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618269	NM_203500.2(KEAP1):c.146A>G (p.Asn49Ser)	KEAP1 (N49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770459	NM_203500.2(KEAP1):c.93G>A (p.Val31=)	KEAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 720212	NM_203500.2(KEAP1):c.90G>A (p.Ala30=)	KEAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2309403	NM_203500.2(KEAP1):c.89C>T (p.Ala30Val)	KEAP1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345816	NM_203500.2(KEAP1):c.44G>A (p.Arg15Gln)	KEAP1 (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113943	NM_203500.2(KEAP1):c.8C>T (p.Pro3Leu)	KEAP1 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248456	NC_000019.9:g.(?_10244343)_(10610709_?)del	CDC37, DNMT1 +12 more	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic

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Items: 53