ClinVar for Gene (Select 2529) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280222	NM_004479.4(FUT7):c.197A>T (p.Asp66Val)	FUT7, LINC02908 (D66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280220	NM_004479.4(FUT7):c.5A>G (p.Asn2Ser)	FUT7, LINC02908 (N2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280219	NM_004479.4(FUT7):c.934G>A (p.Asp312Asn)	FUT7, LINC02908 (D312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280218	NM_004479.4(FUT7):c.919G>A (p.Val307Met)	FUT7, LINC02908 (V307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280217	NM_004479.4(FUT7):c.905G>A (p.Arg302His)	FUT7, LINC02908 (R302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280216	NM_004479.4(FUT7):c.112C>T (p.Arg38Trp)	FUT7, LINC02908 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280215	NM_004479.4(FUT7):c.245G>A (p.Arg82Gln)	FUT7, LINC02908 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280214	NM_004479.4(FUT7):c.1012G>A (p.Gly338Ser)	FUT7, LINC02908 (G338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280213	NM_004479.4(FUT7):c.488C>T (p.Ser163Leu)	FUT7, LINC02908 (S163L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280212	NM_004479.4(FUT7):c.122C>T (p.Pro41Leu)	FUT7, LINC02908 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	ABCA2, ABL1 +147 more	Duplication	not provided	GUncertain significance
Select item 3097533	NM_004479.4(FUT7):c.634G>A (p.Ala212Thr)	FUT7, LINC02908 (A212T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097532	NM_004479.4(FUT7):c.62T>C (p.Val21Ala)	FUT7, LINC02908 (V21A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097530	NM_004479.4(FUT7):c.601G>A (p.Val201Ile)	FUT7, LINC02908 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097529	NM_004479.4(FUT7):c.580G>A (p.Ala194Thr)	FUT7, LINC02908 (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097528	NM_004479.4(FUT7):c.434G>A (p.Arg145His)	FUT7, LINC02908 (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097527	NM_004479.4(FUT7):c.224G>A (p.Arg75His)	FUT7, LINC02908 (R75H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2596558	NM_004479.4(FUT7):c.463C>T (p.Arg155Cys)	FUT7, LINC02908 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590581	NM_004479.4(FUT7):c.847C>G (p.Leu283Val)	FUT7, LINC02908 (L283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2553590	NM_004479.4(FUT7):c.971A>T (p.Tyr324Phe)	FUT7, LINC02908 (Y324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549981	NM_004479.4(FUT7):c.749C>T (p.Thr250Ile)	FUT7, LINC02908 (T250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549386	NM_004479.4(FUT7):c.610C>T (p.Arg204Cys)	FUT7, LINC02908 (R204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542863	NM_004479.4(FUT7):c.893T>G (p.Phe298Cys)	FUT7, LINC02908 (F298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508502	NM_004479.4(FUT7):c.713C>T (p.Thr238Met)	FUT7, LINC02908 (T238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460188	NM_004479.4(FUT7):c.592C>T (p.Arg198Trp)	FUT7, LINC02908 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457239	NM_004479.4(FUT7):c.595G>A (p.Val199Met)	FUT7, LINC02908 (V199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ABCA2, ADAMTS13 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
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 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2408579	NM_004479.4(FUT7):c.28C>T (p.Arg10Trp)	FUT7, LINC02908 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400814	NM_004479.4(FUT7):c.668G>A (p.Arg223His)	FUT7, LINC02908 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391124	NM_004479.4(FUT7):c.302G>A (p.Arg101Gln)	FUT7, LINC02908 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390405	NM_004479.4(FUT7):c.881G>A (p.Arg294Gln)	FUT7, LINC02908 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341359	NM_004479.4(FUT7):c.271G>A (p.Val91Met)	FUT7, LINC02908 (V91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337605	NM_004479.4(FUT7):c.728G>C (p.Arg243Pro)	FUT7, LINC02908 (R243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331288	NM_004479.4(FUT7):c.77C>T (p.Ala26Val)	FUT7, LINC02908 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324647	NM_004479.4(FUT7):c.940C>T (p.Arg314Trp)	FUT7, LINC02908 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324526	NM_004479.4(FUT7):c.581C>T (p.Ala194Val)	FUT7, LINC02908 (A194V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316433	NM_004479.4(FUT7):c.242A>G (p.Asn81Ser)	FUT7, LINC02908 (N81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295731	NM_004479.4(FUT7):c.827A>G (p.Asp276Gly)	FUT7, LINC02908 (D276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280803	NM_004479.4(FUT7):c.958A>C (p.Ile320Leu)	FUT7, LINC02908 (I320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272304	NM_004479.4(FUT7):c.233T>G (p.Leu78Arg)	FUT7, LINC02908 (L78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271352	NM_004479.4(FUT7):c.494C>T (p.Pro165Leu)	FUT7, LINC02908 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245270	NM_004479.4(FUT7):c.91T>C (p.Trp31Arg)	FUT7, LINC02908 (W31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213249	NM_004479.4(FUT7):c.436G>A (p.Asp146Asn)	FUT7, LINC02908 (D146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 1527567	GRCh37/hg19 9q34.3(chr9:139563039-140310033)	ABCA2, AGPAT2 +50 more	Copy number loss	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 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 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	CCDC183, LRRC26 +68 more	Copy number loss	Cryptorchidism +1 more	GPathogenic
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	RABL6, SAPCD2 +49 more	Duplication	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 997822	Single allele	NDOR1, DPP7 +45 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980360	GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3	NELFB, CYSRT1 +34 more	Copy number gain	not provided	GUncertain significance
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	PNPLA7, ARRDC1 +77 more	Deletion	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 770201	NM_004479.4(FUT7):c.970T>C (p.Tyr324His)	FUT7, LINC02908 (Y324H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713946	NM_004479.4(FUT7):c.745G>A (p.Gly249Ser)	FUT7, LINC02908 (G249S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687997	GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3	ABCA2, ANAPC2 +32 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 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)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +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 443824	GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	ABCA2, AGPAT2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 442899	GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1	ABCA2, AGPAT2 +88 more	Copy number loss	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 393947	GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1	ABCA2, AGPAT2 +88 more	Copy number loss	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
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 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	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 152149	GRCh38/hg38 9q34.3(chr9:137025210-137048081)x3	ABCA2, FUT7 +3 more	Copy number gain	See cases	GBenign
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 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)	LOC121366033, LOC121366034 +3785 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 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2