17181[HGNC] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	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 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	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 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 3202560	NM_014064.4(NTMT1):c.565G>A (p.Val189Met)	ASB6, NTMT1 (V189M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2255776	NM_014064.4(NTMT1):c.575G>A (p.Arg192Lys)	ASB6, NTMT1 (R104K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202561	NM_014064.4(NTMT1):c.605T>G (p.Leu202Arg)	ASB6, NTMT1 (L114R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2317276	NM_014064.4(NTMT1):c.647A>G (p.His216Arg)	ASB6, NTMT1 (H128R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202562	NM_014064.4(NTMT1):c.653A>G (p.Tyr218Cys)	ASB6, NTMT1 (Y218C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304369	NM_017873.4(ASB6):c.1243G>A (p.Gly415Ser)	ASB6 (G386S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130194	NM_017873.4(ASB6):c.1186G>C (p.Val396Leu)	ASB6 (V367L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384490	NM_017873.4(ASB6):c.1151G>A (p.Arg384Gln)	ASB6 (R355Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557915	NM_017873.4(ASB6):c.1150C>T (p.Arg384Trp)	ASB6 (R384W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467380	NM_017873.4(ASB6):c.1118C>T (p.Pro373Leu)	ASB6 (P373L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482851	NM_017873.4(ASB6):c.1099C>G (p.Gln367Glu)	ASB6 (Q338E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470015	NM_017873.4(ASB6):c.1067A>G (p.Glu356Gly)	ASB6 (E356G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355445	NM_017873.4(ASB6):c.1030G>A (p.Glu344Lys)	ASB6 (E315K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130203	NM_017873.4(ASB6):c.973A>G (p.Lys325Glu)	ASB6 (K296E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130202	NM_017873.4(ASB6):c.941C>T (p.Thr314Met)	ASB6 (T285M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317664	NM_017873.4(ASB6):c.938G>C (p.Cys313Ser)	ASB6 (C313S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130201	NM_017873.4(ASB6):c.917G>A (p.Arg306Lys)	ASB6 (R277K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385864	NM_017873.4(ASB6):c.856G>A (p.Ala286Thr)	ASB6 (A257T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130200	NM_017873.4(ASB6):c.823C>T (p.Pro275Ser)	ASB6 (P246S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317675	NM_017873.4(ASB6):c.748G>A (p.Gly250Arg)	ASB6 (G221R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411097	NM_017873.4(ASB6):c.731G>A (p.Arg244Gln)	ASB6 (R215Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2292861	NM_017873.4(ASB6):c.709C>G (p.Arg237Gly)	ASB6 (R237G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292860	NM_017873.4(ASB6):c.708C>G (p.Asn236Lys)	ASB6 (N236K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659573	NM_017873.4(ASB6):c.675G>A (p.Val225=)	ASB6 (W189*)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2261219	NM_017873.4(ASB6):c.635C>T (p.Thr212Ile)	ASB6 (T212I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543316	NM_017873.4(ASB6):c.622A>G (p.Lys208Glu)	ASB6 (K179E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232826	NM_017873.4(ASB6):c.607G>A (p.Val203Ile)	ASB6 (V174I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365631	NM_017873.4(ASB6):c.581G>A (p.Arg194His)	ASB6 (V158I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130199	NM_017873.4(ASB6):c.570T>C (p.Thr190=)	ASB6 (L154P)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2402621	NM_017873.4(ASB6):c.499G>A (p.Ala167Thr)	ASB6 (A167T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317644	NM_017873.4(ASB6):c.368T>C (p.Val123Ala)	ASB6 (V123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341868	NM_017873.4(ASB6):c.326T>C (p.Ile109Thr)	ASB6 (I109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484202	NM_017873.4(ASB6):c.322C>T (p.His108Tyr)	ASB6 (H108Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317654	NM_017873.4(ASB6):c.281A>G (p.Asn94Ser)	ASB6 (N94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363339	NM_017873.4(ASB6):c.277G>A (p.Ala93Thr)	ASB6 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400272	NM_017873.4(ASB6):c.259G>A (p.Val87Ile)	ASB6 (V87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130198	NM_017873.4(ASB6):c.253G>T (p.Ala85Ser)	ASB6 (A85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130197	NM_017873.4(ASB6):c.251C>T (p.Ala84Val)	ASB6 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346253	NM_017873.4(ASB6):c.247C>T (p.Arg83Trp)	ASB6 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264657	NM_017873.4(ASB6):c.214G>A (p.Ala72Thr)	ASB6 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376926	NM_017873.4(ASB6):c.212A>G (p.Asn71Ser)	ASB6 (N71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
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 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +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 687422	GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3	ASB6, ASS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +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 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 80