11478[HGNC] - ClinVar

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Items: 77

	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 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 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 2217578	NM_006753.6(SURF6):c.1025T>G (p.Leu342Arg)	SURF6 (L342R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3323671	NM_006753.6(SURF6):c.940G>A (p.Val314Met)	SURF6 (V314M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2374096	NM_006753.6(SURF6):c.923A>T (p.Glu308Val)	SURF6 (E308V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2312106	NM_006753.6(SURF6):c.907C>T (p.Arg303Trp)	SURF6 (R303W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3172235	NM_006753.6(SURF6):c.904C>G (p.Gln302Glu)	SURF6 (Q302E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2526575	NM_006753.6(SURF6):c.890A>C (p.Glu297Ala)	SURF6 (E297A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2382036	NM_006753.6(SURF6):c.852C>G (p.Asp284Glu)	SURF6 (D284E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2363113	NM_006753.6(SURF6):c.848G>A (p.Arg283His)	SURF6 (R283H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3323673	NM_006753.6(SURF6):c.826A>G (p.Lys276Glu)	SURF6 (K276E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2285521	NM_006753.6(SURF6):c.823T>C (p.Tyr275His)	SURF6 (Y275H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2244600	NM_006753.6(SURF6):c.771T>A (p.Asp257Glu)	SURF6 (D257E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3172233	NM_006753.6(SURF6):c.593T>C (p.Leu198Pro)	SURF6 (L198P)	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 2395629	NM_006753.6(SURF6):c.584C>T (p.Pro195Leu)	SURF6 (P195L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348932	NM_006753.6(SURF6):c.575C>T (p.Pro192Leu)	SURF6 (P192L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172232	NM_006753.6(SURF6):c.556G>A (p.Glu186Lys)	SURF6 (E186K)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3172230	NM_006753.6(SURF6):c.476G>A (p.Arg159Gln)	SURF6 (E159K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486999	NM_006753.6(SURF6):c.466A>G (p.Lys156Glu)	SURF6 (K156E)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2570328	NM_006753.6(SURF6):c.461G>A (p.Arg154Gln)	SURF6 (G154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279460	NM_006753.6(SURF6):c.437G>A (p.Arg146Gln)	SURF6 (G146S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209567	NM_006753.6(SURF6):c.421G>A (p.Ala141Thr)	SURF6 (A141T)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3172228	NM_006753.6(SURF6):c.413C>T (p.Ser138Phe)	SURF6 (S138F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258775	NM_006753.6(SURF6):c.389G>T (p.Gly130Val)	SURF6 (G130V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323674	NM_006753.6(SURF6):c.386G>A (p.Arg129Gln)	SURF6 (R129Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333050	NM_006753.6(SURF6):c.374T>A (p.Ile125Asn)	SURF6 (I125N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370518	NM_006753.6(SURF6):c.314C>T (p.Ala105Val)	SURF6 (A105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659693	NM_006753.6(SURF6):c.258C>T (p.Ala86=)	SURF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3323672	NM_006753.6(SURF6):c.248C>G (p.Pro83Arg)	SURF6 (P83R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269771	NM_006753.6(SURF6):c.184G>C (p.Ala62Pro)	SURF6 (A62P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246032	NM_006753.6(SURF6):c.173G>A (p.Arg58Gln)	SURF6 (R58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377409	NM_006753.6(SURF6):c.92G>C (p.Arg31Pro)	SURF6 (R31P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172231	NM_006753.6(SURF6):c.49A>G (p.Lys17Glu)	SURF6 (K17E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323670	NM_006753.6(SURF6):c.22G>A (p.Asp8Asn)	SURF6 (D8N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323669	NM_006753.6(SURF6):c.20A>G (p.Lys7Arg)	SURF6 (K7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228495	NM_006753.6(SURF6):c.19A>G (p.Lys7Glu)	SURF6 (K7E)	Single nucleotide variant (missense variant +1 more)	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 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 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	ABO, ADAMTS13 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	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 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
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 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
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 394160	GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3	ABO, CEL +13 more	Copy number gain	See cases	GUncertain significance
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: 77