ClinVar for Gene (Select 158326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379848	NM_001379081.2(FREM1):c.5754T>G (p.Asp1918Glu)	FREM1 (D1918E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378212	NM_001379081.2(FREM1):c.3604A>G (p.Ser1202Gly)	FREM1 (S1202G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3374900	NM_001379081.2(FREM1):c.3289A>T (p.Lys1097Ter)	FREM1 (K1097*)	Single nucleotide variant (nonsense +1 more)	FREM1-related disorder	GPathogenic
Select item 3369539	NM_001379081.2(FREM1):c.3862A>G (p.Met1288Val)	FREM1 (M1288V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369488	NM_001379081.2(FREM1):c.6310G>T (p.Asp2104Tyr)	FREM1 (D2104Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365675	NM_001379081.2(FREM1):c.2114G>A (p.Ser705Asn)	FREM1 (S705N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358676	NM_001379081.2(FREM1):c.4796C>A (p.Thr1599Lys)	FREM1 (T135K +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3358626	NM_001379081.2(FREM1):c.1519C>T (p.Arg507Cys)	FREM1 (R507C)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3358235	NM_001379081.2(FREM1):c.4982C>G (p.Pro1661Arg)	FREM1 (P1661R +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3356066	NM_001379081.2(FREM1):c.5205-1G>A	FREM1	Single nucleotide variant (splice acceptor variant)	FREM1-related disorder	GLikely pathogenic
Select item 3353790	NM_001379081.2(FREM1):c.2800C>T (p.Pro934Ser)	FREM1, LOC126860582 (P934S)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3353052	NM_001379081.2(FREM1):c.1775T>G (p.Phe592Cys)	FREM1 (F592C)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3351849	NM_001379081.2(FREM1):c.3600G>T (p.Gly1200=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3351425	NM_001379081.2(FREM1):c.736C>T (p.Arg246Cys)	FREM1 (R246C +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3349154	NM_001379081.2(FREM1):c.1016C>G (p.Ala339Gly)	FREM1 (A339G +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3344268	NM_001379081.2(FREM1):c.1562C>T (p.Pro521Leu)	FREM1 (P521L)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3343621	NM_001379081.2(FREM1):c.2486G>C (p.Gly829Ala)	FREM1 (G829A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340449	NM_001379081.2(FREM1):c.346A>G (p.Thr116Ala)	FREM1 (T116A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338458	GRCh37/hg19 9p23-22.3(chr9:13927869-15424029)x1	CER1, FREM1 +4 more	Copy number loss	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 3337127	NM_001379081.2(FREM1):c.2750del (p.Thr917fs)	FREM1, LOC126860582 (T917fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3279794	NM_001379081.2(FREM1):c.6333T>A (p.Phe2111Leu)	FREM1 (F647L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279793	NM_001379081.2(FREM1):c.5598C>G (p.His1866Gln)	FREM1 (H402Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279792	NM_001379081.2(FREM1):c.1832A>C (p.Gln611Pro)	FREM1 (Q611P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279791	NM_001379081.2(FREM1):c.595C>T (p.Arg199Cys)	FREM1 (R199C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279790	NM_001379081.2(FREM1):c.103A>C (p.Met35Leu)	FREM1 (M35L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279789	NM_001379081.2(FREM1):c.3315C>G (p.Asn1105Lys)	FREM1 (N1105K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279788	NM_001379081.2(FREM1):c.4095T>G (p.Asp1365Glu)	FREM1 (D1365E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279786	NM_001379081.2(FREM1):c.4304C>G (p.Ser1435Cys)	FREM1 (S1435C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279785	NM_001379081.2(FREM1):c.286T>C (p.Cys96Arg)	FREM1 (C96R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279784	NM_001379081.2(FREM1):c.3425A>C (p.Asn1142Thr)	FREM1 (N1142T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279783	NM_001379081.2(FREM1):c.2191G>A (p.Val731Met)	FREM1 (V731M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279782	NM_001379081.2(FREM1):c.6391C>A (p.Pro2131Thr)	FREM1 (P2131T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3279781	NM_001379081.2(FREM1):c.257C>A (p.Pro86His)	FREM1 (P86H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279780	NM_001379081.2(FREM1):c.1018C>G (p.Pro340Ala)	FREM1 (P340A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279779	NM_001379081.2(FREM1):c.5512G>A (p.Gly1838Ser)	FREM1 (G374S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3279777	NM_001379081.2(FREM1):c.4417G>A (p.Val1473Met)	FREM1 (V1473M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279776	NM_001379081.2(FREM1):c.5396A>G (p.Gln1799Arg)	FREM1 (Q335R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279775	NM_001379081.2(FREM1):c.3697A>G (p.Met1233Val)	FREM1 (M1233V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279774	NM_001379081.2(FREM1):c.1231A>G (p.Thr411Ala)	FREM1 (T411A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253451	NM_001379081.2(FREM1):c.883C>G (p.Pro295Ala)	FREM1 (P295A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251216	NM_001379081.2(FREM1):c.2133_2135del (p.Lys711del)	FREM1 (K711del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3245399	NC_000009.11:g.(?_14848643)_(14868975_?)del	FREM1	Deletion	not provided	GPathogenic
Select item 3233398	NM_001379081.2(FREM1):c.3165dup (p.Ala1056fs)	FREM1 (A1056fs)	Duplication (frameshift variant +1 more)	Oculotrichoanal syndrome	GLikely pathogenic
Select item 3096776	NM_001379081.2(FREM1):c.980C>G (p.Thr327Ser)	FREM1 (T327S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096775	NM_001379081.2(FREM1):c.878A>G (p.Gln293Arg)	FREM1 (Q302R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096774	NM_001379081.2(FREM1):c.86A>G (p.Asn29Ser)	FREM1 (N29S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096772	NM_001379081.2(FREM1):c.80G>C (p.Ser27Thr)	FREM1 (S27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096771	NM_001379081.2(FREM1):c.6193C>T (p.His2065Tyr)	FREM1 (H601Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3096770	NM_001379081.2(FREM1):c.6107T>C (p.Ile2036Thr)	FREM1 (I522T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096769	NM_001379081.2(FREM1):c.596G>A (p.Arg199His)	FREM1 (R199H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096768	NM_001379081.2(FREM1):c.5710G>T (p.Ala1904Ser)	FREM1 (A1904S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096767	NM_001379081.2(FREM1):c.5397G>T (p.Gln1799His)	FREM1 (Q1799H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096766	NM_001379081.2(FREM1):c.5129C>T (p.Pro1710Leu)	FREM1 (P246L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096765	NM_001379081.2(FREM1):c.4877C>G (p.Thr1626Arg)	FREM1 (T162R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096764	NM_001379081.2(FREM1):c.443A>G (p.Asn148Ser)	FREM1 (N148S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096763	NM_001379081.2(FREM1):c.4319G>A (p.Gly1440Asp)	FREM1 (G1440D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096762	NM_001379081.2(FREM1):c.4016T>A (p.Met1339Lys)	FREM1 (M1339K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096760	NM_001379081.2(FREM1):c.3924G>C (p.Arg1308Ser)	FREM1 (R1308S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096759	NM_001379081.2(FREM1):c.383T>C (p.Leu128Pro)	FREM1 (L128P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096758	NM_001379081.2(FREM1):c.373G>T (p.Val125Phe)	FREM1 (V125F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096757	NM_001379081.2(FREM1):c.3736G>A (p.Ala1246Thr)	FREM1 (A1246T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096756	NM_001379081.2(FREM1):c.3641C>G (p.Pro1214Arg)	FREM1 (P1214R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096755	NM_001379081.2(FREM1):c.3495G>T (p.Glu1165Asp)	FREM1 (E1165D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096754	NM_001379081.2(FREM1):c.3363C>G (p.Phe1121Leu)	FREM1 (F1121L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096753	NM_001379081.2(FREM1):c.2901G>T (p.Glu967Asp)	FREM1 (E967D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096752	NM_001379081.2(FREM1):c.2705C>T (p.Ser902Leu)	FREM1, LOC126860582 (S902L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096751	NM_001379081.2(FREM1):c.2654A>G (p.Asn885Ser)	FREM1, LOC126860582 (N885S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096749	NM_001379081.2(FREM1):c.2449C>T (p.Arg817Trp)	FREM1 (R817W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096748	NM_001379081.2(FREM1):c.2380A>G (p.Ile794Val)	FREM1 (I794V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3096747	NM_001379081.2(FREM1):c.2141C>T (p.Thr714Met)	FREM1 (T714M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096746	NM_001379081.2(FREM1):c.1982T>C (p.Ile661Thr)	FREM1 (I661T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096745	NM_001379081.2(FREM1):c.1838T>C (p.Val613Ala)	FREM1 (V613A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096744	NM_001379081.2(FREM1):c.1540G>A (p.Val514Ile)	FREM1 (V514I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3096743	NM_001379081.2(FREM1):c.1483G>A (p.Val495Met)	FREM1 (V495M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096742	NM_001379081.2(FREM1):c.1168T>A (p.Tyr390Asn)	FREM1 (Y390N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096741	NM_001379081.2(FREM1):c.1030T>C (p.Tyr344His)	FREM1 (Y353H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065979	NM_001379081.2(FREM1):c.5205-2A>G	FREM1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 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 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3061742	NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)	FREM1, LOC126860582 (V908*)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome	GPathogenic
Select item 3058953	NM_001379081.2(FREM1):c.3018G>A (p.Ala1006=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3058183	NM_001379081.2(FREM1):c.2338-5T>G	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder	GLikely benign
Select item 3058103	NM_001379081.2(FREM1):c.329+6C>T	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder	GLikely benign
Select item 3056663	NM_001379081.2(FREM1):c.42G>C (p.Leu14=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3054484	NM_001379081.2(FREM1):c.4326C>A (p.Ile1442=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3052852	NM_001379081.2(FREM1):c.6009+4T>G	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder	GLikely benign
Select item 3050391	NM_001379081.2(FREM1):c.903C>T (p.Ala301=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3048354	NM_001379081.2(FREM1):c.5909A>G (p.Lys1970Arg)	FREM1 (K1970R +2 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3046710	NM_001379081.2(FREM1):c.6348C>T (p.Asn2116=)	FREM1 (R564*)	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder	GLikely benign
Select item 3046386	NM_001379081.2(FREM1):c.4644G>A (p.Gln1548=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3041986	NM_001379081.2(FREM1):c.1289G>A (p.Arg430Gln)	FREM1 (R430Q)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3036318	NM_001379081.2(FREM1):c.6210G>A (p.Glu2070=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder	GLikely benign
Select item 3035197	NM_001379081.2(FREM1):c.1668C>T (p.Tyr556=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3035126	NM_001379081.2(FREM1):c.459G>A (p.Ala153=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 3030795	NM_001379081.2(FREM1):c.4443-50A>G	FREM1 (M1V)	Single nucleotide variant (missense variant +3 more)	FREM1-related disorder	GLikely benign
Select item 3030336	NM_001379081.2(FREM1):c.5496T>C (p.Pro1832=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder	GLikely benign
Select item 3029936	NM_001379081.2(FREM1):c.3167C>A (p.Ala1056Glu)	FREM1 (A1056E)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3026792	NM_001379081.2(FREM1):c.2792C>T (p.Ala931Val)	FREM1, LOC126860582 (A931V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024011	NM_001379081.2(FREM1):c.4056A>G (p.Arg1352=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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