ClinVar for Gene (Select 2021) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2556350	NM_004435.2(ENDOG):c.50G>T (p.Gly17Val)	ENDOG, LOC130002724 (G17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537172	NM_004435.2(ENDOG):c.389C>T (p.Ala130Val)	ENDOG (A130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479810	NM_004435.2(ENDOG):c.577G>A (p.Val193Ile)	ENDOG, KYAT1-SPOUT1 +1 more (V193I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2474441	NM_004435.2(ENDOG):c.263G>T (p.Arg88Leu)	ENDOG (R88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473791	NM_004435.2(ENDOG):c.329G>C (p.Arg110Pro)	ENDOG (R110P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471708	NM_004435.2(ENDOG):c.536T>C (p.Leu179Pro)	ENDOG, KYAT1-SPOUT1 +1 more (L179P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2462773	NM_004435.2(ENDOG):c.550C>T (p.Arg184Cys)	ENDOG, KYAT1-SPOUT1 +1 more (R184C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2411034	NM_004435.2(ENDOG):c.124G>C (p.Val42Leu)	ENDOG (V42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395978	NM_004435.2(ENDOG):c.728A>G (p.Glu243Gly)	ENDOG, KYAT1-SPOUT1 +1 more (E243G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392779	NM_004435.2(ENDOG):c.241T>G (p.Tyr81Asp)	ENDOG (Y81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391177	NM_004435.2(ENDOG):c.854G>A (p.Arg285Gln)	ENDOG, KYAT1-SPOUT1 +1 more (R285Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351459	NM_004435.2(ENDOG):c.821C>T (p.Ser274Leu)	ENDOG, KYAT1-SPOUT1 +1 more (S274L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345090	NM_004435.2(ENDOG):c.784C>T (p.Arg262Cys)	ENDOG, KYAT1-SPOUT1 +1 more (R262C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225944	NM_004435.2(ENDOG):c.301C>T (p.Pro101Ser)	ENDOG (P101S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 988939	GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3	DOLK, DYNC2I2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 815298	GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3	GLE1, SH3GLB2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815297	GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1	ENDOG, SET +31 more	Copy number loss	not provided	GPathogenic
Select item 789305	NM_004435.2(ENDOG):c.737C>T (p.Thr246Ile)	ENDOG, KYAT1-SPOUT1 +1 more (T246I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 789304	NM_004435.2(ENDOG):c.734G>T (p.Arg245Leu)	ENDOG, KYAT1-SPOUT1 +1 more (R245L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774205	NM_004435.2(ENDOG):c.654C>T (p.Ile218=)	ENDOG, KYAT1-SPOUT1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 738480	NM_004435.2(ENDOG):c.210G>C (p.Pro70=)	ENDOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253999	GRCh37/hg19 9q34.11(chr9:131550680-131775355)x3	LRRC8A, SPOUT1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 218639	NM_004435.2(ENDOG):c.889_892del (p.Lys297fs)	ENDOG, KYAT1-SPOUT1 +1 more (K297fs)	Deletion (frameshift variant +1 more)	not specified	GBenign
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 58499	GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3	DOLK, ENDOG +16 more	Copy number gain	See cases	GUncertain significance
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56