ClinVar for MedGen (Select 5501) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26379081.	NM_000132.4(F8):c.1120del (p.Met374fs) GRCh37: ChrX:154194852 GRCh38: ChrX:154966577	F8	M374fs	Hereditary factor VIII deficiency disease	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 26379042.	NM_000132.4(F8):c.745A>T (p.Lys249Ter) GRCh37: ChrX:154213004 GRCh38: ChrX:154984729	F8	K249*	Hereditary factor VIII deficiency disease	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 26379033.	NM_000132.4(F8):c.2717C>G (p.Ser906Ter) GRCh37: ChrX:154159348 GRCh38: ChrX:154931073	F8	S906*	Hereditary factor VIII deficiency disease	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 26379024.	NM_000132.4(F8):c.836T>G (p.Met279Arg) GRCh37: ChrX:154197779 GRCh38: ChrX:154969504	F8	M279R	Hereditary factor VIII deficiency disease	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 26378345.	NM_000132.4(F8):c.6505C>T (p.Arg2169Cys) GRCh37: ChrX:154091427 GRCh38: ChrX:154863152	F8	R2169C, R34C	Hereditary factor VIII deficiency disease	Pathogenic (Oct 20, 2023)	criteria provided, single submitter
Select item 26274896.	NM_000132.4(F8):c.1405G>T (p.Gly469Ter) GRCh37: ChrX:154194283 GRCh38: ChrX:154966008	F8	G469*	Hereditary factor VIII deficiency disease	Likely pathogenic	criteria provided, single submitter
Select item 26274267.	NM_000132.4(F8):c.1904-2A>G GRCh37: ChrX:154176184 GRCh38: ChrX:154947909	F8		Hereditary factor VIII deficiency disease	Likely pathogenic	criteria provided, single submitter
Select item 26272748.	NC_000023.10:g.(154091503_154124351)_(154227876_154250684)dup GRCh37: ChrX:154091503-154250684	F8, F8A1, H2AB1		Hereditary factor VIII deficiency disease	Pathogenic (Sep 19, 2023)	criteria provided, single submitter
Select item 25851179.	NM_000132.4(F8):c.1727A>T (p.Glu576Val) GRCh37: ChrX:154185257 GRCh38: ChrX:154956982	F8	E576V	Hereditary factor VIII deficiency disease	Uncertain significance	criteria provided, single submitter
Select item 258277010.	NM_000132.4(F8):c.5132A>C (p.Gln1711Pro) GRCh37: ChrX:154156933 GRCh38: ChrX:154928658	F8	Q1711P	Hereditary factor VIII deficiency disease	Uncertain significance (Oct 9, 2023)	no assertion criteria provided
Select item 257913411.	NM_000132.4(F8):c.683A>C (p.His228Pro) GRCh37: ChrX:154213066 GRCh38: ChrX:154984791	F8	H228P	Hereditary factor VIII deficiency disease	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 257215012.	NM_000132.4(F8):c.2T>A (p.Met1Lys) GRCh37: ChrX:154250826 GRCh38: ChrX:155022551	F8	M1K	Hereditary factor VIII deficiency disease	Uncertain significance	criteria provided, single submitter
Select item 244442913.	NM_000132.4(F8):c.2043G>A (p.Met681Ile) GRCh37: ChrX:154176043 GRCh38: ChrX:154947768	F8	M681I	Hereditary factor VIII deficiency disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244429914.	NM_000132.4(F8):c.3300dup (p.Glu1101fs) GRCh37: ChrX:154158764-154158765 GRCh38: ChrX:154930489-154930490	F8	E1101fs	Hereditary factor VIII deficiency disease	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244426715.	NM_000132.4(F8):c.6274-2A>G GRCh37: ChrX:154124509 GRCh38: ChrX:154896234	F8		Hereditary factor VIII deficiency disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244426316.	NM_000132.4(F8):c.1180del (p.Ala394fs) GRCh37: ChrX:154194792 GRCh38: ChrX:154966517	F8	A394fs	Hereditary factor VIII deficiency disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244425117.	NM_000132.4(F8):c.5290C>T (p.Gln1764Ter) GRCh37: ChrX:154134778 GRCh38: ChrX:154906503	F8	Q1764*	Hereditary factor VIII deficiency disease	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244421718.	NM_000132.4(F8):c.5939_5940del (p.His1980fs) GRCh37: ChrX:154132239-154132240 GRCh38: ChrX:154903964-154903965	F8	H1980fs	Hereditary factor VIII deficiency disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244421119.	NM_000132.4(F8):c.755_756del (p.Thr252fs) GRCh37: ChrX:154212993-154212994 GRCh38: ChrX:154984718-154984719	F8	T252fs	Hereditary factor VIII deficiency disease	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244421020.	NM_000132.4(F8):c.5994del (p.Pro1999fs) GRCh37: ChrX:154132185 GRCh38: ChrX:154903910	F8	P1999fs	Hereditary factor VIII deficiency disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244418421.	NM_000132.4(F8):c.5586+2T>C GRCh37: ChrX:154133084 GRCh38: ChrX:154904809	F8		Hereditary factor VIII deficiency disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244417722.	NM_000132.4(F8):c.6900+1G>C GRCh37: ChrX:154088706 GRCh38: ChrX:154860431	F8		Hereditary factor VIII deficiency disease	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244411123.	NM_000132.4(F8):c.6115+2T>C GRCh37: ChrX:154130324 GRCh38: ChrX:154902049	F8		Hereditary factor VIII deficiency disease	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244402824.	NM_000132.4(F8):c.1712T>G (p.Leu571Arg) GRCh37: ChrX:154185272 GRCh38: ChrX:154956997	F8	L571R	Hereditary factor VIII deficiency disease	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 244195825.	NM_000132.4(F8):c.3213G>A (p.Met1071Ile) GRCh37: ChrX:154158852 GRCh38: ChrX:154930577	F8	M1071I	Hereditary factor VIII deficiency disease	Uncertain significance (Jun 9, 2021)	criteria provided, single submitter
Select item 199236826.	NM_000132.4(F8):c.2045T>C (p.Val682Ala) GRCh37: ChrX:154176041 GRCh38: ChrX:154947766	F8	V682A	Hereditary factor VIII deficiency disease	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 180328427.	NM_000132.4(F8):c.335C>T (p.Ser112Phe) GRCh37: ChrX:154225301 GRCh38: ChrX:154997026	F8	S112F	Hereditary factor VIII deficiency disease	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 180327728.	NM_000552.5(VWF):c.2308C>T (p.Pro770Ser) GRCh37: Chr12:6153591 GRCh38: Chr12:6044425	VWF	P770S	Hereditary factor VIII deficiency disease	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 180327529.	NM_000132.4(F8):c.6052G>A (p.Glu2018Lys) GRCh37: ChrX:154130389 GRCh38: ChrX:154902114	F8	E2018K	Hereditary factor VIII deficiency disease	Likely pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 180324530.	NM_000132.4(F8):c.557A>G (p.Asp186Gly) GRCh37: ChrX:154221255 GRCh38: ChrX:154992980	F8	D186G	Hereditary factor VIII deficiency disease	Likely pathogenic (Aug 18, 2021)	criteria provided, single submitter
Select item 180324031.	NM_000132.4(F8):c.6273G>C (p.Lys2091Asn) GRCh37: ChrX:154128141 GRCh38: ChrX:154899866	F8	K2091N	Hereditary factor VIII deficiency disease	Likely pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 180321932.	NM_000132.4(F8):c.5853A>T (p.Leu1951Phe) GRCh37: ChrX:154132326 GRCh38: ChrX:154904051	F8	L1951F	Hereditary factor VIII deficiency disease	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 180318133.	NM_000132.4(F8):c.6362T>A (p.Ile2121Asn) GRCh37: ChrX:154124419 GRCh38: ChrX:154896144	F8	I2121N	Hereditary factor VIII deficiency disease	Uncertain significance (May 27, 2020)	criteria provided, single submitter
Select item 180313334.	NM_000132.4(F8):c.1907T>C (p.Ile636Thr) GRCh37: ChrX:154176179 GRCh38: ChrX:154947904	F8	I636T	Hereditary factor VIII deficiency disease	Likely pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 180312635.	NM_000132.4(F8):c.5853A>C (p.Leu1951Phe) GRCh37: ChrX:154132326 GRCh38: ChrX:154904051	F8	L1951F	Hereditary factor VIII deficiency disease	Pathogenic (Jun 4, 2020)	criteria provided, single submitter
Select item 170546736.	NM_000132.4(F8):c.6375T>A (p.Ser2125Arg) GRCh37: ChrX:154124406 GRCh38: ChrX:154896131	F8	S2125R	Hereditary factor VIII deficiency disease	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170428837.	NM_000132.4(F8):c.4072C>T (p.Gln1358Ter) GRCh37: ChrX:154157993 GRCh38: ChrX:154929718	F8	Q1358*	Hereditary factor VIII deficiency disease	Pathogenic (Dec 14, 2021)	criteria provided, single submitter
Select item 170384638.	NM_000132.4(F8):c.5883G>A (p.Trp1961Ter) GRCh37: ChrX:154132296 GRCh38: ChrX:154904021	F8	W1961*	Hereditary factor VIII deficiency disease	Pathogenic	criteria provided, single submitter
Select item 170384539.	NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs) GRCh37: ChrX:154197717-154197718 GRCh38: ChrX:154969442-154969443	F8	H300fs	Hereditary factor VIII deficiency disease	Likely pathogenic	criteria provided, single submitter
Select item 169928540.	NM_000132.4(F8):c.2163G>T (p.Met721Ile) GRCh37: ChrX:154159902 GRCh38: ChrX:154931627	F8	M721I	Hereditary factor VIII deficiency disease	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 169893141.	NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) GRCh37: ChrX:154129714 GRCh38: ChrX:154901439	F8	C2040Y	Hereditary factor VIII deficiency disease	Likely pathogenic (Nov 25, 2020)	criteria provided, single submitter
Select item 169886342.	NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) GRCh37: ChrX:154134766 GRCh38: ChrX:154906491	F8	R1768C	Hereditary factor VIII deficiency disease	Pathogenic/Likely pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169881943.	NM_000132.4(F8):c.1203G>A (p.Trp401Ter) GRCh37: ChrX:154194769 GRCh38: ChrX:154966494	F8	W401*	Hereditary factor VIII deficiency disease	Pathogenic (Sep 10, 2019)	criteria provided, single submitter
Select item 169878644.	NM_000132.4(F8):c.1443+2T>G GRCh37: ChrX:154194243 GRCh38: ChrX:154965968	F8		Hereditary factor VIII deficiency disease	Pathogenic (Aug 26, 2020)	criteria provided, single submitter
Select item 169878345.	NM_000132.4(F8):c.967G>A (p.Gly323Arg) GRCh37: ChrX:154197648 GRCh38: ChrX:154969373	F8	G323R	Hereditary factor VIII deficiency disease	Likely pathogenic (Oct 14, 2019)	criteria provided, single submitter
Select item 169878246.	NM_000132.4(F8):c.5855T>A (p.Val1952Glu) GRCh37: ChrX:154132324 GRCh38: ChrX:154904049	F8	V1952E	Hereditary factor VIII deficiency disease	Pathogenic (Sep 6, 2019)	criteria provided, single submitter
Select item 169878047.	NM_000132.4(F8):c.671-1G>A GRCh37: ChrX:154213079 GRCh38: ChrX:154984804	F8		Hereditary factor VIII deficiency disease	Pathogenic (Nov 25, 2020)	criteria provided, single submitter
Select item 169877548.	NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) GRCh37: ChrX:154156914-154156915 GRCh38: ChrX:154928639-154928640	F8	Y1717fs	Hereditary factor VIII deficiency disease	Pathogenic (May 21, 2021)	criteria provided, single submitter
Select item 169874949.	NM_000132.4(F8):c.5582A>G (p.Asp1861Gly) GRCh37: ChrX:154133090 GRCh38: ChrX:154904815	F8	D1861G	Hereditary factor VIII deficiency disease	Uncertain significance (Dec 14, 2020)	criteria provided, single submitter
Select item 169874050.	NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) GRCh37: ChrX:154130442 GRCh38: ChrX:154902167	F8	G2000A	Hereditary factor VIII deficiency disease	Likely pathogenic (Aug 6, 2020)	criteria provided, single submitter
Select item 168579951.	NM_000132.4(F8):c.1337G>A (p.Arg446Gln) GRCh37: ChrX:154194351 GRCh38: ChrX:154966076	F8	R446Q	Hereditary factor VIII deficiency disease, Thrombophilia, X-linked, due to factor 8 defect	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 168579752.	NM_000132.4(F8):c.2840C>G (p.Pro947Arg) GRCh37: ChrX:154159225 GRCh38: ChrX:154930950	F8	P947R	Hereditary factor VIII deficiency disease, Thrombophilia, X-linked, due to factor 8 defect	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 168579153.	NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) GRCh37: ChrX:154157237 GRCh38: ChrX:154928962	F8	A1610S	Hereditary factor VIII deficiency disease, Thrombophilia, X-linked, due to factor 8 defect	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 168578454.	NM_000132.4(F8):c.5999-11G>A GRCh37: ChrX:154130453 GRCh38: ChrX:154902178	F8		not provided, Thrombophilia, X-linked, due to factor 8 defect, Hereditary factor VIII deficiency disease	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 168438555.	NM_000132.4(F8):c.248C>G (p.Pro83Arg) GRCh37: ChrX:154227771 GRCh38: ChrX:154999496	F8	P83R	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 168438456.	NM_000132.4(F8):c.308T>C (p.Val103Ala) GRCh37: ChrX:154225328 GRCh38: ChrX:154997053	F8	V103A	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 168438357.	NM_000132.4(F8):c.460A>G (p.Thr154Ala) GRCh37: ChrX:154221352 GRCh38: ChrX:154993077	F8	T154A	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 168438158.	NM_000132.4(F8):c.509C>T (p.Pro170Leu) GRCh37: ChrX:154221303 GRCh38: ChrX:154993028	F8	P170L	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 168437959.	NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) GRCh37: ChrX:154130394 GRCh38: ChrX:154902119	F8	R2016Q	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 168437860.	NM_000132.4(F8):c.6617A>G (p.Asp2206Gly) GRCh37: ChrX:154090099 GRCh38: ChrX:154861824	F8	D2206G, D71G	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 168437761.	NM_000132.4(F8):c.6968G>C (p.Arg2323Pro) GRCh37: ChrX:154065960 GRCh38: ChrX:154837685	F8	R188P, R2323P	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 168437662.	NM_000132.4(F8):c.901C>T (p.Arg301Cys) GRCh37: ChrX:154197714 GRCh38: ChrX:154969439	F8	R301C	Hereditary factor VIII deficiency disease	Likely pathogenic	no assertion criteria provided
Select item 167950663.	NM_000132.4(F8):c.1696C>T (p.Leu566Phe) GRCh37: ChrX:154185288 GRCh38: ChrX:154957013	F8	L566F	Hereditary factor VIII deficiency disease	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 167946764.	NM_000132.4(F8):c.5576A>T (p.Asp1859Val) GRCh37: ChrX:154133096 GRCh38: ChrX:154904821	F8	D1859V	Hereditary factor VIII deficiency disease	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 167946465.	NM_000132.4(F8):c.2618G>A (p.Gly873Asp) GRCh37: ChrX:154159447 GRCh38: ChrX:154931172	F8	G873D	Hereditary factor VIII deficiency disease	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 167944966.	NM_000132.4(F8):c.853G>A (p.Val285Met) GRCh37: ChrX:154197762 GRCh38: ChrX:154969487	F8	V285M	Hereditary factor VIII deficiency disease	Likely pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 167725767.	NM_000132.4(F8):c.2150G>T (p.Arg717Leu) GRCh37: ChrX:154159915 GRCh38: ChrX:154931640	F8	R717L	Hereditary factor VIII deficiency disease	Pathogenic	criteria provided, single submitter
Select item 167725668.	NM_000132.4(F8):c.1930T>G (p.Leu644Val) GRCh37: ChrX:154176156 GRCh38: ChrX:154947881	F8	L644V	Hereditary factor VIII deficiency disease	Likely pathogenic	criteria provided, single submitter
Select item 167674369.	NM_000132.4(F8):c.5506T>C (p.Trp1836Arg) GRCh37: ChrX:154133166 GRCh38: ChrX:154904891	F8	W1836R	Hereditary factor VIII deficiency disease	Likely pathogenic	criteria provided, single submitter
Select item 134215770.	NM_000132.4(F8):c.1169T>C (p.Ile390Thr) GRCh37: ChrX:154194803 GRCh38: ChrX:154966528	F8	I390T	Hereditary factor VIII deficiency disease	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 133330171.	NM_000132.4(F8):c.2974_2977del (p.Phe992fs) GRCh37: ChrX:154159088-154159091 GRCh38: ChrX:154930813-154930816	F8	F992fs	Hereditary factor VIII deficiency disease	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133316472.	NM_000132.4(F8):c.4379dup (p.Asn1460fs) GRCh37: ChrX:154157685-154157686 GRCh38: ChrX:154929410-154929411	F8	N1460fs	Hereditary factor VIII deficiency disease, Thrombophilia, X-linked, due to factor 8 defect, not provided, Hereditary factor VIII deficiency disease	Pathogenic/Likely pathogenic (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133109073.	NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) GRCh37: ChrX:154133291-154133293 GRCh38: ChrX:154905016-154905018	F8	F1794fs	Hereditary factor VIII deficiency disease	Pathogenic (Oct 5, 2020)	criteria provided, single submitter
Select item 133108574.	NM_000132.4(F8):c.650T>C (p.Leu217Pro) GRCh37: ChrX:154215532 GRCh38: ChrX:154987257	F8	L217P	Hereditary factor VIII deficiency disease	Likely pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 133108375.	NM_000132.4(F8):c.6975del (p.Arg2326fs) GRCh37: ChrX:154065953 GRCh38: ChrX:154837678	F8	R191fs, R2326fs	Hereditary factor VIII deficiency disease	Likely pathogenic (Jan 14, 2021)	criteria provided, single submitter
Select item 133105776.	NM_000132.4(F8):c.6020del (p.Met2007fs) GRCh37: ChrX:154130421 GRCh38: ChrX:154902146	F8	M2007fs	Hereditary factor VIII deficiency disease	Pathogenic (Oct 16, 2020)	criteria provided, single submitter
Select item 133104177.	NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) GRCh37: ChrX:154157056 GRCh38: ChrX:154928781	F8	T1670I	Inborn genetic diseases, Hereditary factor VIII deficiency disease	Uncertain significance (Jun 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133104078.	NM_000132.4(F8):c.1430G>T (p.Gly477Val) GRCh37: ChrX:154194258 GRCh38: ChrX:154965983	F8	G477V	Hereditary factor VIII deficiency disease	Likely pathogenic (Mar 11, 2021)	criteria provided, single submitter
Select item 133101179.	NM_000132.4(F8):c.940A>C (p.Thr314Pro) GRCh37: ChrX:154197675 GRCh38: ChrX:154969400	F8	T314P	Hereditary factor VIII deficiency disease	Uncertain significance (Mar 2, 2021)	criteria provided, single submitter
Select item 133100280.	NM_000132.4(F8):c.944C>G (p.Ala315Gly) GRCh37: ChrX:154197671 GRCh38: ChrX:154969396	F8	A315G	Hereditary factor VIII deficiency disease	Uncertain significance (Nov 25, 2020)	criteria provided, single submitter
Select item 133097981.	NM_000132.4(F8):c.4333T>C (p.Ser1445Pro) GRCh37: ChrX:154157732 GRCh38: ChrX:154929457	F8	S1445P	Hereditary factor VIII deficiency disease	Likely benign (Jan 10, 2021)	criteria provided, single submitter
Select item 133096682.	NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) GRCh37: ChrX:154159945-154159946 GRCh38: ChrX:154931670-154931671	F8	W707fs	Hereditary factor VIII deficiency disease	Pathogenic (Aug 3, 2021)	criteria provided, single submitter
Select item 133095783.	NM_000132.4(F8):c.74A>G (p.Tyr25Cys) GRCh37: ChrX:154250754 GRCh38: ChrX:155022479	F8	Y25C	Hereditary factor VIII deficiency disease	Likely pathogenic (Nov 30, 2020)	criteria provided, single submitter
Select item 133092484.	NM_000132.4(F8):c.1481T>G (p.Ile494Ser) GRCh37: ChrX:154189406 GRCh38: ChrX:154961131	F8	I494S	Hereditary factor VIII deficiency disease	Likely pathogenic (Jul 23, 2021)	criteria provided, single submitter
Select item 133092085.	NM_000132.4(F8):c.1316G>T (p.Gly439Val) GRCh37: ChrX:154194372 GRCh38: ChrX:154966097	F8	G439V	Hereditary factor VIII deficiency disease	Pathogenic (Jan 10, 2021)	criteria provided, single submitter
Select item 133091986.	NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) GRCh37: ChrX:154157307 GRCh38: ChrX:154929032	F8	W1586*	Hereditary factor VIII deficiency disease	Pathogenic (Dec 30, 2020)	criteria provided, single submitter
Select item 133090587.	NM_000132.4(F8):c.2506dup (p.Ser836fs) GRCh37: ChrX:154159558-154159559 GRCh38: ChrX:154931283-154931284	F8	S836fs	Hereditary factor VIII deficiency disease	Pathogenic (Feb 2, 2021)	criteria provided, single submitter
Select item 133089688.	NM_000132.4(F8):c.650T>G (p.Leu217Arg) GRCh37: ChrX:154215532 GRCh38: ChrX:154987257	F8	L217R	Hereditary factor VIII deficiency disease	Likely pathogenic (Dec 3, 2020)	criteria provided, single submitter
Select item 133089289.	NM_000132.4(F8):c.6593G>A (p.Gly2198Glu) GRCh37: ChrX:154090123 GRCh38: ChrX:154861848	F8	G2198E, G63E	Hereditary factor VIII deficiency disease	Likely pathogenic (May 12, 2021)	criteria provided, single submitter
Select item 133088390.	NM_000132.4(F8):c.55A>C (p.Ser19Arg) GRCh37: ChrX:154250773 GRCh38: ChrX:155022498	F8	S19R	Hereditary factor VIII deficiency disease	Likely pathogenic (Oct 12, 2020)	criteria provided, single submitter
Select item 133087191.	NM_000132.4(F8):c.2162T>C (p.Met721Thr) GRCh37: ChrX:154159903 GRCh38: ChrX:154931628	F8	M721T	Hereditary factor VIII deficiency disease	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 133086092.	NM_000132.4(F8):c.6323C>T (p.Ala2108Val) GRCh37: ChrX:154124458 GRCh38: ChrX:154896183	F8	A2108V	Inborn genetic diseases, Hereditary factor VIII deficiency disease	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133085493.	NM_000132.4(F8):c.2101A>G (p.Met701Val) GRCh37: ChrX:154175985 GRCh38: ChrX:154947710	F8	M701V	Hereditary factor VIII deficiency disease	Likely pathogenic (Dec 24, 2020)	criteria provided, single submitter
Select item 133082094.	NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) GRCh37: ChrX:154133223 GRCh38: ChrX:154904948	F8	Q1817*	Hereditary factor VIII deficiency disease	Pathogenic (Jan 22, 2021)	criteria provided, single submitter
Select item 133079995.	NM_000132.4(F8):c.437_438del (p.Lys146fs) GRCh37: ChrX:154221374-154221375 GRCh38: ChrX:154993099-154993100	F8	K146fs	Hereditary factor VIII deficiency disease	Pathogenic (Jan 4, 2021)	criteria provided, single submitter
Select item 133079196.	NM_000132.4(F8):c.6118T>G (p.Cys2040Gly) GRCh37: ChrX:154129715 GRCh38: ChrX:154901440	F8	C2040G	Hereditary factor VIII deficiency disease	Likely pathogenic (Jun 3, 2021)	criteria provided, single submitter
Select item 133078197.	NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) GRCh37: ChrX:154133170-154133171 GRCh38: ChrX:154904895-154904896	F8	Y1834*	Hereditary factor VIII deficiency disease	Pathogenic (Apr 6, 2021)	criteria provided, single submitter
Select item 133077798.	NM_000132.4(F8):c.2902G>T (p.Glu968Ter) GRCh37: ChrX:154159163 GRCh38: ChrX:154930888	F8	E968*	Hereditary factor VIII deficiency disease	Pathogenic (Oct 20, 2021)	criteria provided, single submitter
Select item 133075599.	NM_000132.4(F8):c.388+1G>A GRCh37: ChrX:154225247 GRCh38: ChrX:154996972	F8		Hereditary factor VIII deficiency disease	Pathogenic (Mar 12, 2021)	criteria provided, single submitter
Select item 1330732100.	NM_000132.4(F8):c.286C>T (p.Gln96Ter) GRCh37: ChrX:154225350 GRCh38: ChrX:154997075	F8	Q96*	Hereditary factor VIII deficiency disease	Pathogenic (Mar 31, 2021)	criteria provided, single submitter

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