C4540036[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 344

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 311927	NM_207361.6(FREM2):c.-260A>G	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2 +1 more	GBenign
Select item 311928	NM_207361.6(FREM2):c.-251A>G	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311929	NM_207361.6(FREM2):c.-244G>T	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311930	NM_207361.6(FREM2):c.-219G>A	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311931	NM_207361.6(FREM2):c.-193T>C	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311932	NM_207361.6(FREM2):c.-182G>A	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GLikely benign
Select item 884194	NM_207361.6(FREM2):c.-33A>G	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311933	NM_207361.6(FREM2):c.1A>G (p.Met1Val)	FREM2 (M1V)	Single nucleotide variant (missense variant +1 more)	Fraser syndrome 2	GUncertain significance
Select item 884195	NM_207361.6(FREM2):c.65C>T (p.Pro22Leu)	FREM2 (P22L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 193533	NM_207361.6(FREM2):c.84C>G (p.Pro28=)	FREM2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 703191	NM_207361.6(FREM2):c.109C>T (p.Leu37Phe)	FREM2 (L37F)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 311935	NM_207361.6(FREM2):c.175G>C (p.Gly59Arg)	FREM2 (G59R)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 880910	NM_207361.6(FREM2):c.176G>C (p.Gly59Ala)	FREM2 (G59A)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 702640	NM_207361.6(FREM2):c.176G>A (p.Gly59Asp)	FREM2 (G59D)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GBenign
Select item 193527	NM_207361.6(FREM2):c.177T>C (p.Gly59=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 880911	NM_207361.6(FREM2):c.297G>A (p.Val99=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 193538	NM_207361.6(FREM2):c.303C>A (p.Pro101=)	FREM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 311936	NM_207361.6(FREM2):c.319G>A (p.Val107Ile)	FREM2 (V107I)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311937	NM_207361.6(FREM2):c.335A>G (p.Asn112Ser)	FREM2 (N112S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882275	NM_207361.6(FREM2):c.383C>T (p.Pro128Leu)	FREM2 (P128L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 882276	NM_207361.6(FREM2):c.410G>A (p.Arg137His)	FREM2 (R137H)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311938	NM_207361.6(FREM2):c.532C>A (p.Gln178Lys)	FREM2 (Q178K)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 882277	NM_207361.6(FREM2):c.560C>T (p.Pro187Leu)	FREM2 (P187L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 263299	NM_207361.6(FREM2):c.576G>A (p.Glu192=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +4 more	GBenign
Select item 703000	NM_207361.6(FREM2):c.595G>T (p.Ala199Ser)	FREM2 (A199S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GLikely benign
Select item 882278	NM_207361.6(FREM2):c.632C>G (p.Pro211Arg)	FREM2 (P211R)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311939	NM_207361.6(FREM2):c.690T>C (p.Tyr230=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311940	NM_207361.6(FREM2):c.699C>T (p.Leu233=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2	GUncertain significance
Select item 311941	NM_207361.6(FREM2):c.736G>A (p.Gly246Arg)	FREM2 (G246R)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 882544	NM_207361.6(FREM2):c.787G>A (p.Gly263Ser)	FREM2 (G263S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 311942	NM_207361.6(FREM2):c.913G>A (p.Val305Ile)	FREM2 (V305I)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311943	NM_207361.6(FREM2):c.954C>G (p.Pro318=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +1 more	GBenign
Select item 882545	NM_207361.6(FREM2):c.1020A>G (p.Pro340=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 235731	NM_207361.6(FREM2):c.1188G>C (p.Gln396His)	FREM2 (Q396H)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GBenign
Select item 311944	NM_207361.6(FREM2):c.1191C>T (p.Pro397=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 729329	NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)	FREM2 (L417P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 883327	NM_207361.6(FREM2):c.1345C>G (p.Leu449Val)	FREM2 (L449V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 311945	NM_207361.6(FREM2):c.1369C>G (p.Leu457Val)	FREM2 (L457V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 311946	NM_207361.6(FREM2):c.1395G>A (p.Pro465=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 883328	NM_207361.6(FREM2):c.1398A>G (p.Gln466=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 311947	NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe)	FREM2 (S502F)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 311948	NM_207361.6(FREM2):c.1518C>T (p.Ser506=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +3 more	GBenign/Likely benign
Select item 193535	NM_207361.6(FREM2):c.1542C>T (p.Ala514=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 193530	NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)	FREM2 (S527L)	Single nucleotide variant (missense variant)	FREM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 311949	NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys)	FREM2 (R535C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311950	NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu)	FREM2 (F549L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880962	NM_207361.6(FREM2):c.1677G>C (p.Gln559His)	FREM2 (Q559H)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 311951	NM_207361.6(FREM2):c.1737C>T (p.Ile579=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 880963	NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys)	FREM2 (R613C)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 311952	NM_207361.6(FREM2):c.1941C>T (p.Asp647=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 882323	NM_207361.6(FREM2):c.2062C>T (p.Arg688Trp)	FREM2 (R688W)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311953	NM_207361.6(FREM2):c.2062C>G (p.Arg688Gly)	FREM2 (R688G)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 882324	NM_207361.6(FREM2):c.2103G>A (p.Pro701=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 311954	NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp)	FREM2 (G704D)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 193532	NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)	FREM2 (R710C)	Single nucleotide variant (missense variant)	FREM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 287581	NM_207361.6(FREM2):c.2133G>A (p.Met711Ile)	FREM2 (M711I)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GBenign/Likely benign
Select item 311955	NM_207361.6(FREM2):c.2165G>A (p.Arg722Lys)	FREM2 (R722K)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GBenign
Select item 501390	NM_207361.6(FREM2):c.2180G>A (p.Arg727His)	FREM2 (R727H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 882325	NM_207361.6(FREM2):c.2207G>A (p.Arg736Gln)	FREM2 (R736Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 311956	NM_207361.6(FREM2):c.2214A>G (p.Leu738=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193536	NM_207361.6(FREM2):c.2233= (p.Pro745=)	FREM2	Single nucleotide variant (no sequence alteration)	Fraser syndrome 2 +2 more	GBenign
Select item 193537	NM_207361.6(FREM2):c.2250C>T (p.Asp750=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +3 more	GBenign
Select item 882592	NM_207361.6(FREM2):c.2308G>T (p.Val770Leu)	FREM2 (V770L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 311957	NM_207361.6(FREM2):c.2308G>A (p.Val770Met)	FREM2 (V770M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 882593	NM_207361.6(FREM2):c.2330C>T (p.Ala777Val)	FREM2 (A777V)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 882594	NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu)	FREM2 (P789L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 193528	NM_207361.6(FREM2):c.2367G>A (p.Pro789=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 311958	NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu)	FREM2 (G811E)	Single nucleotide variant (missense variant)	FREM2-related condition +3 more	GUncertain significance
Select item 698134	NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr)	FREM2 (N827T)	Single nucleotide variant (missense variant)	FREM2-related condition +2 more	GBenign/Likely benign
Select item 883377	NM_207361.6(FREM2):c.2580T>C (p.Asp860=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2	GUncertain significance
Select item 705796	NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile)	FREM2 (T867I)	Single nucleotide variant (missense variant)	FREM2-related condition +3 more	GBenign/Likely benign
Select item 311959	NM_207361.6(FREM2):c.2602C>G (p.Leu868Val)	FREM2 (L868V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 631701	NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter)	FREM2 (Q870*)	Single nucleotide variant (nonsense)	FREM2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 193524	NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)	FREM2 (C914G)	Single nucleotide variant (missense variant)	FREM2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 311960	NM_207361.6(FREM2):c.2749G>A (p.Glu917Lys)	FREM2 (E917K)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 193529	NM_207361.6(FREM2):c.2823C>T (p.Pro941=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 881019	NM_207361.6(FREM2):c.2966C>T (p.Pro989Leu)	FREM2 (P989L)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 881020	NM_207361.6(FREM2):c.2972A>C (p.Tyr991Ser)	FREM2 (Y991S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 311961	NM_207361.6(FREM2):c.2978A>G (p.Glu993Gly)	FREM2 (E993G)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GBenign
Select item 311962	NM_207361.6(FREM2):c.3015T>C (p.Thr1005=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881021	NM_207361.6(FREM2):c.3033G>C (p.Glu1011Asp)	FREM2 (E1011D)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 235588	NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys)	FREM2 (M1039K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 881022	NM_207361.6(FREM2):c.3139G>A (p.Gly1047Ser)	FREM2 (G1047S)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 881023	NM_207361.6(FREM2):c.3143A>G (p.Asn1048Ser)	FREM2 (N1048S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 193525	NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)	FREM2 (F1070S)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +4 more	GBenign/Likely benign
Select item 311963	NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr)	FREM2 (I1085T)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 882376	NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser)	FREM2 (N1099S)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 882377	NM_207361.6(FREM2):c.3389G>A (p.Gly1130Glu)	FREM2 (G1130E)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311964	NM_207361.6(FREM2):c.3517T>C (p.Phe1173Leu)	FREM2 (F1173L)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 882378	NM_207361.6(FREM2):c.3569A>C (p.Gln1190Pro)	FREM2 (Q1190P)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 882379	NM_207361.6(FREM2):c.3644C>T (p.Ala1215Val)	FREM2 (A1215V)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311965	NM_207361.6(FREM2):c.3737C>T (p.Thr1246Met)	FREM2 (T1246M)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 311966	NM_207361.6(FREM2):c.3738G>A (p.Thr1246=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311967	NM_207361.6(FREM2):c.3753C>T (p.Ser1251=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related condition +3 more	GBenign/Likely benign
Select item 311968	NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys)	FREM2 (Y1265C)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 882642	NM_207361.6(FREM2):c.3908C>T (p.Thr1303Met)	FREM2 (T1303M)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 311969	NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile)	FREM2 (L1327I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 311970	NM_207361.6(FREM2):c.3983T>C (p.Met1328Thr)	FREM2 (M1328T)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 311971	NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	FREM2 (R1344H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 311972	NM_207361.6(FREM2):c.4038G>A (p.Gly1346=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related condition +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4