ClinVar for Gene (Select 6835) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323668	NM_017503.5(SURF2):c.89T>A (p.Ile30Asn)	SURF2 (I30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323667	NM_017503.5(SURF2):c.725A>T (p.His242Leu)	SURF2 (H241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323666	NM_017503.5(SURF2):c.704T>C (p.Leu235Ser)	SURF2 (L235S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323665	NM_017503.5(SURF2):c.361G>A (p.Val121Met)	SURF2 (V121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323664	NM_017503.5(SURF2):c.439C>T (p.Arg147Trp)	SURF2 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323663	NM_017503.5(SURF2):c.499A>G (p.Met167Val)	SURF2 (M167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323662	NM_017503.5(SURF2):c.74G>A (p.Arg25His)	LOC130002900, SURF2 (R25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323661	NM_017503.5(SURF2):c.679C>T (p.Arg227Cys)	SURF2 (R227C)	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 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 3172222	NM_017503.5(SURF2):c.682G>A (p.Gly228Arg)	SURF2 (G228R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172220	NM_017503.5(SURF2):c.445G>A (p.Ala149Thr)	SURF2 (A149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172218	NM_017503.5(SURF2):c.14C>T (p.Pro5Leu)	SURF2 (P5L)	Single nucleotide variant (missense variant)	not specified	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 2614575	NM_017503.5(SURF2):c.509T>C (p.Leu170Pro)	SURF2 (L170P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538710	NM_017503.5(SURF2):c.44A>C (p.His15Pro)	SURF2 (H15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519238	NM_017503.5(SURF2):c.391C>T (p.Arg131Trp)	SURF2 (R131W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512629	NM_017503.5(SURF2):c.764C>T (p.Pro255Leu)	SURF2 (P254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471756	NM_017503.5(SURF2):c.655G>A (p.Val219Met)	SURF2 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464937	NM_017503.5(SURF2):c.314G>A (p.Arg105Gln)	SURF2 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	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 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 2405882	NM_017503.5(SURF2):c.511T>C (p.Tyr171His)	SURF2 (Y171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397401	NM_017503.5(SURF2):c.293T>C (p.Leu98Pro)	SURF2 (L98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382320	NM_017503.5(SURF2):c.416T>A (p.Met139Lys)	SURF2 (M139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339846	NM_017503.5(SURF2):c.302C>G (p.Thr101Ser)	SURF2 (T101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335249	NM_017503.5(SURF2):c.440G>A (p.Arg147Gln)	SURF2 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321129	NM_017503.5(SURF2):c.392G>A (p.Arg131Gln)	SURF2 (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270181	NM_017503.5(SURF2):c.332G>A (p.Cys111Tyr)	SURF2 (C111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266113	NM_017503.5(SURF2):c.338A>C (p.Tyr113Ser)	SURF2 (Y113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246760	NM_017503.5(SURF2):c.613C>T (p.Pro205Ser)	SURF2 (P205S)	Single nucleotide variant (missense variant)	not specified	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 1328859	NC_000009.12:g.133356635C>T	SURF1, SURF2 (H15Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1292593	NC_000009.12:g.133356665C>T	LOC130002900, SURF1 +1 more (R25C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1219076	NC_000009.12:g.133356715T>C	LOC130002900, SURF1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218470	NC_000009.12:g.133356760GGGAGAG[2]	SURF1, SURF2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1211958	NC_000009.12:g.133356661C>T	LOC130002900, SURF1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1198865	NC_000009.12:g.133356570G>C	SURF1, SURF2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 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 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76