"GeneDx"[submitter] AND "FREM1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 366095	NM_001379081.2(FREM1):c.*148A>G	FREM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 262545	NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro)	FREM1 (Q2143P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 1254680	NM_001379081.2(FREM1):c.6341-23T>C	FREM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259353	NM_001379081.2(FREM1):c.6341-150G>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239229	NM_001379081.2(FREM1):c.6340+86T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
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 366102	NM_001379081.2(FREM1):c.6255-4T>G	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GBenign
Select item 1243136	NM_001379081.2(FREM1):c.6255-68T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231284	NM_001379081.2(FREM1):c.6255-119_6255-118insC	FREM1	Insertion (intron variant)	not provided	GBenign
Select item 1295019	NM_001379081.2(FREM1):c.6255-124A>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256881	NM_001379081.2(FREM1):c.6254+90A>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261926	NM_001379081.2(FREM1):c.6254+45A>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2505948	NM_144966.5(FREM1):c.6139del	FREM1	Deletion (intron variant)	not provided	GPathogenic
Select item 2181765	NM_001379081.2(FREM1):c.6139-2A>G	FREM1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1294744	NM_001379081.2(FREM1):c.6138+75C>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271929	NM_001379081.2(FREM1):c.6010-84A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224706	NM_001379081.2(FREM1):c.6009+105T>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262544	NM_001379081.2(FREM1):c.5859T>C (p.Val1953=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1234178	NM_001379081.2(FREM1):c.5796+226T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383364	NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)	FREM1 (W1874C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2069330	NM_001379081.2(FREM1):c.5594A>T (p.Lys1865Met)	FREM1 (K351M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1222715	NM_001379081.2(FREM1):c.5407+45dup	FREM1	Duplication (intron variant)	not provided	GBenign
Select item 1253395	NM_001379081.2(FREM1):c.5407+45T>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366112	NM_001379081.2(FREM1):c.5335-8dup	FREM1	Duplication (intron variant)	Oculotrichoanal syndrome +1 more	GBenign/Likely benign
Select item 196637	NM_001379081.2(FREM1):c.5335-11dup	FREM1	Duplication (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1257621	NM_001379081.2(FREM1):c.5335-39T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220945	NM_001379081.2(FREM1):c.5334+45T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1231061	NM_001379081.2(FREM1):c.5205-41A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 497702	NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)	FREM1 (V1719M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1243097	NM_001379081.2(FREM1):c.5059+82C>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237778	NM_001379081.2(FREM1):c.5059+23C>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262543	NM_001379081.2(FREM1):c.5004C>A (p.Ile1668=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 597418	NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter)	FREM1 (Y1647* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1283931	NM_001379081.2(FREM1):c.4858-21A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280467	NM_001379081.2(FREM1):c.4857+57_4857+58insCT	FREM1	Insertion (intron variant)	not provided	GBenign
Select item 1245057	NM_001379081.2(FREM1):c.4857+58T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224634	NM_001379081.2(FREM1):c.4857+57_4857+58insC	FREM1	Insertion (intron variant)	not provided	GBenign
Select item 366117	NM_001379081.2(FREM1):c.4857+8T>C	FREM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262542	NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 262541	NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 262540	NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile)	FREM1 (N1576I +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 1810527	NM_001379081.2(FREM1):c.4639G>T (p.Val1547Phe)	FREM1 (V83F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 262539	NM_001379081.2(FREM1):c.4617G>A (p.Ala1539=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 366121	NM_001379081.2(FREM1):c.4504G>A (p.Val1502Met)	FREM1 (V1502M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 195994	NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe)	FREM1 (I1497F +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +4 more	GUncertain significance
Select item 1250687	NM_001379081.2(FREM1):c.4442+163A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277105	NM_001379081.2(FREM1):c.4442+117A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246938	NM_001379081.2(FREM1):c.4442+56G>A	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702613	NM_001379081.2(FREM1):c.4427C>G (p.Ser1476Cys)	FREM1 (S1476C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 366122	NM_001379081.2(FREM1):c.4421C>T (p.Thr1474Ile)	FREM1 (T1474I)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign
Select item 1710689	NM_001379081.2(FREM1):c.4312C>T (p.Arg1438Ter)	FREM1 (R1438*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 366124	NM_001379081.2(FREM1):c.4244C>G (p.Thr1415Ser)	FREM1 (T1415S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1266637	NM_001379081.2(FREM1):c.4178-33T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230007	NM_001379081.2(FREM1):c.4178-146A>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182758	NM_001379081.2(FREM1):c.4177+31A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504423	NM_001379081.2(FREM1):c.3925del (p.Glu1309fs)	FREM1 (E1309fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 430003	NM_001379081.2(FREM1):c.3910G>T (p.Glu1304Ter)	FREM1 (E1304*)	Single nucleotide variant (nonsense +1 more)	not provided	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 1243263	NM_001379081.2(FREM1):c.3839+197G>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233046	NM_001379081.2(FREM1):c.3839+196C>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265495	NM_001379081.2(FREM1):c.3839+71GT[7]	FREM1	Microsatellite (intron variant)	not provided	GBenign
Select item 366129	NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu)	FREM1 (D1273E)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign
Select item 366132	NM_001379081.2(FREM1):c.3708G>A (p.Thr1236=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 262538	NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 262537	NM_001379081.2(FREM1):c.3634G>T (p.Ala1212Ser)	FREM1 (A1212S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 195629	NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)	FREM1 (P1211S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 366133	NM_001379081.2(FREM1):c.3606C>G (p.Ser1202Arg)	FREM1 (S1202R)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign
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 2219740	NM_001379081.2(FREM1):c.3598G>A (p.Gly1200Arg)	FREM1 (G1200R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 281550	NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His)	FREM1 (R1192H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 2662884	NM_001379081.2(FREM1):c.3535C>A (p.Pro1179Thr)	FREM1 (P1179T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1266750	NM_001379081.2(FREM1):c.3472-220G>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366134	NM_001379081.2(FREM1):c.3471+11T>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GBenign
Select item 2579333	NM_001379081.2(FREM1):c.3317A>G (p.Tyr1106Cys)	FREM1 (Y1106C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 262536	NM_001379081.2(FREM1):c.3089-4G>T	FREM1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1267807	NM_001379081.2(FREM1):c.3089-58C>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265260	NM_001379081.2(FREM1):c.3088+156C>T	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366136	NM_001379081.2(FREM1):c.3048G>A (p.Thr1016=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign
Select item 912774	NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser)	FREM1 (G966S)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 1224120	NM_001379081.2(FREM1):c.2894-193G>A	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311510	NM_001379081.2(FREM1):c.2647C>T (p.Pro883Ser)	FREM1, LOC126860582 (P883S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1295001	NM_001379081.2(FREM1):c.2641-122G>A	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249048	NM_001379081.2(FREM1):c.2640+91A>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236876	NM_001379081.2(FREM1):c.2640+64A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194680	NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val)	FREM1 (L863V)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 1287854	NM_001379081.2(FREM1):c.2547-173G>A	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
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 366145	NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser)	FREM1 (T807S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 262535	NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr)	FREM1 (S803Y)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 1278511	NM_001379081.2(FREM1):c.2337+192A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366148	NM_001379081.2(FREM1):c.2277T>C (p.Gly759=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 194440	NM_001379081.2(FREM1):c.2274C>A (p.Gly758=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1239186	NM_001379081.2(FREM1):c.2170-82A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288657	NM_001379081.2(FREM1):c.2170-99G>A	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223890	NM_001379081.2(FREM1):c.2169+109A>G	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign
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 366152	NM_001379081.2(FREM1):c.2104A>G (p.Met702Val)	FREM1 (M702V)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign
Select item 1240737	NM_001379081.2(FREM1):c.2079-173T>C	FREM1	Single nucleotide variant (intron variant)	not provided	GBenign

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