ClinVar for Gene (Select 2533) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 159

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358285	NM_001465.6(FYB1):c.29C>G (p.Pro10Arg)	FYB1 (P10R +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GUncertain significance
Select item 3355526	NM_001465.6(FYB1):c.-27-5883A>G	FYB1	Single nucleotide variant (5 prime UTR variant +1 more)	FYB1-related disorder	GLikely benign
Select item 3354678	NM_001465.6(FYB1):c.-27-5884C>T	FYB1	Single nucleotide variant (5 prime UTR variant +1 more)	FYB1-related disorder	GLikely benign
Select item 3352595	NM_001465.6(FYB1):c.-15G>C	FYB1 (D6H)	Single nucleotide variant (missense variant +1 more)	FYB1-related disorder	GLikely benign
Select item 3280257	NM_001465.6(FYB1):c.1177C>T (p.Pro393Ser)	FYB1 (P403S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280256	NM_001465.6(FYB1):c.17C>T (p.Thr6Met)	FYB1 (T16M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280255	NM_001465.6(FYB1):c.739A>G (p.Asn247Asp)	FYB1 (N257D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280254	NM_001465.6(FYB1):c.58C>A (p.Pro20Thr)	FYB1 (P30T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280253	NM_001465.6(FYB1):c.1199C>T (p.Pro400Leu)	FYB1 (P400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280252	NM_001465.6(FYB1):c.2288T>C (p.Ile763Thr)	FYB1 (I727T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280251	NM_001465.6(FYB1):c.610C>G (p.Leu204Val)	FYB1 (L204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097615	NM_001465.6(FYB1):c.949C>G (p.Pro317Ala)	FYB1 (P317A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097614	NM_001465.6(FYB1):c.943A>G (p.Lys315Glu)	FYB1 (K325E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097613	NM_001465.6(FYB1):c.92G>T (p.Gly31Val)	FYB1 (G41V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097612	NM_001465.6(FYB1):c.886C>A (p.Gln296Lys)	FYB1 (Q306K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097611	NM_001465.6(FYB1):c.823C>T (p.Leu275Phe)	FYB1 (L275F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097610	NM_001465.6(FYB1):c.814G>T (p.Gly272Cys)	FYB1 (G282C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097609	NM_001465.6(FYB1):c.706G>A (p.Gly236Ser)	FYB1 (G246S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097608	NM_001465.6(FYB1):c.458C>G (p.Pro153Arg)	FYB1 (P163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097607	NM_001465.6(FYB1):c.380C>T (p.Pro127Leu)	FYB1 (P137L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097606	NM_001465.6(FYB1):c.310G>A (p.Glu104Lys)	FYB1 (E104K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097605	NM_001465.6(FYB1):c.306C>G (p.Asp102Glu)	FYB1 (D102E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097604	NM_001465.6(FYB1):c.287C>A (p.Ala96Asp)	FYB1 (A96D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097603	NM_001465.6(FYB1):c.278G>A (p.Gly93Glu)	FYB1 (G93E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097602	NM_001465.6(FYB1):c.256A>G (p.Thr86Ala)	FYB1 (T86A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3097601	NM_001465.6(FYB1):c.2482A>T (p.Asn828Tyr)	FYB1 (N782Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097600	NM_001465.6(FYB1):c.2468G>A (p.Gly823Asp)	FYB1 (G777D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097599	NM_001465.6(FYB1):c.242C>G (p.Pro81Arg)	FYB1 (P81R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097598	NM_001465.6(FYB1):c.2389G>A (p.Glu797Lys)	FYB1 (E761K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097597	NM_001465.6(FYB1):c.2374G>T (p.Val792Phe)	FYB1 (V756F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097596	NM_001465.6(FYB1):c.2350A>T (p.Ile784Leu)	FYB1 (I738L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097595	NM_001465.6(FYB1):c.2290A>G (p.Thr764Ala)	FYB1 (T718A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097594	NM_001465.6(FYB1):c.2075T>C (p.Met692Thr)	FYB1 (M656T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097593	NM_001465.6(FYB1):c.1959G>C (p.Leu653Phe)	FYB1 (L663F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097592	NM_001465.6(FYB1):c.1928A>G (p.Glu643Gly)	FYB1 (E643G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097591	NM_001465.6(FYB1):c.1669G>A (p.Gly557Ser)	FYB1 (G557S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097590	NM_001465.6(FYB1):c.1631A>G (p.Asp544Gly)	FYB1 (D554G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097589	NM_001465.6(FYB1):c.1559G>A (p.Cys520Tyr)	FYB1 (C520Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097588	NM_001465.6(FYB1):c.1528A>T (p.Ile510Phe)	FYB1 (I520F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097587	NM_001465.6(FYB1):c.151C>T (p.Pro51Ser)	FYB1 (P51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097586	NM_001465.6(FYB1):c.139C>T (p.Pro47Ser)	FYB1 (P57S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097585	NM_001465.6(FYB1):c.1342G>T (p.Ala448Ser)	FYB1 (A448S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097584	NM_001465.6(FYB1):c.1304A>G (p.Asn435Ser)	FYB1 (N445S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097583	NM_001465.6(FYB1):c.1259C>T (p.Pro420Leu)	FYB1 (P420L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097582	NM_001465.6(FYB1):c.1190C>G (p.Pro397Arg)	FYB1 (P397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097581	NM_001465.6(FYB1):c.1117A>G (p.Lys373Glu)	FYB1 (K373E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097580	NM_001465.6(FYB1):c.1106C>T (p.Thr369Met)	FYB1 (T369M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097579	NM_001465.6(FYB1):c.1083C>G (p.Asn361Lys)	FYB1 (N361K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097578	NM_001465.6(FYB1):c.1050G>T (p.Leu350Phe)	FYB1 (L360F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059425	NM_001465.6(FYB1):c.804G>A (p.Ala268=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related disorder	GLikely benign
Select item 3058681	NM_001465.6(FYB1):c.18G>A (p.Thr6=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related disorder	GLikely benign
Select item 3057548	NM_001465.6(FYB1):c.1281G>A (p.Pro427=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related disorder	GLikely benign
Select item 3054911	NM_001465.6(FYB1):c.1906G>T (p.Gly636Cys)	FYB1 (G636C +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GLikely benign
Select item 3053173	NM_001465.6(FYB1):c.982C>A (p.Gln328Lys)	FYB1 (Q328K +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GBenign
Select item 3043812	NM_001465.6(FYB1):c.2000G>A (p.Arg667Gln)	FYB1 (R667Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042900	NM_001465.6(FYB1):c.606G>A (p.Pro202=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related disorder	GLikely benign
Select item 3039741	NM_001465.6(FYB1):c.1516-5T>C	FYB1	Single nucleotide variant (intron variant)	FYB1-related disorder	GLikely benign
Select item 3038884	NM_001465.6(FYB1):c.2412C>T (p.Val804=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related disorder	GLikely benign
Select item 3038317	NM_001465.6(FYB1):c.1280C>T (p.Pro427Leu)	FYB1 (P427L +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GLikely benign
Select item 3037434	NM_001465.6(FYB1):c.410C>T (p.Pro137Leu)	FYB1 (P137L +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GLikely benign
Select item 3033523	NM_001465.6(FYB1):c.290G>T (p.Ser97Ile)	FYB1 (S107I +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GLikely benign
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2655444	NM_001465.6(FYB1):c.459G>A (p.Pro153=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655443	NM_001465.6(FYB1):c.1629A>G (p.Thr543=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655442	NM_001465.6(FYB1):c.1651T>C (p.Leu551=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655441	NM_001465.6(FYB1):c.1941G>A (p.Thr647=)	FYB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619238	NM_001465.6(FYB1):c.1397A>G (p.Glu466Gly)	FYB1 (E466G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612024	NM_001465.6(FYB1):c.2136G>T (p.Met712Ile)	FYB1 (M676I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611427	NM_001465.6(FYB1):c.2357C>T (p.Thr786Ile)	FYB1 (T740I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609916	NM_001465.6(FYB1):c.1022C>A (p.Thr341Asn)	FYB1 (T341N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591993	NM_001465.6(FYB1):c.423T>G (p.Ser141Arg)	FYB1 (S141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571222	NM_001465.6(FYB1):c.243G>A (p.Pro81=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2558758	NM_001465.6(FYB1):c.2455G>A (p.Asp819Asn)	FYB1 (D819N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544669	NM_001465.6(FYB1):c.1152G>C (p.Gln384His)	FYB1 (Q394H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537916	NM_001465.6(FYB1):c.743A>T (p.Lys248Ile)	FYB1 (K248I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537817	NM_001465.6(FYB1):c.685C>A (p.Leu229Met)	FYB1 (L239M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531840	NM_001465.6(FYB1):c.961A>G (p.Thr321Ala)	FYB1 (T321A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477681	NM_001465.6(FYB1):c.674C>A (p.Ser225Tyr)	FYB1 (S235Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460648	NM_001465.6(FYB1):c.385T>C (p.Phe129Leu)	FYB1 (F129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459274	NM_001465.6(FYB1):c.2294C>T (p.Ser765Phe)	FYB1 (S729F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458767	NM_001465.6(FYB1):c.1106C>G (p.Thr369Arg)	FYB1 (T379R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443135	NM_001465.6(FYB1):c.2068T>C (p.Leu690=)	FYB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2441594	NM_001465.6(FYB1):c.405C>G (p.Asn135Lys)	FYB1 (N135K +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 3	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	GUncertain significance
Select item 1809312	GRCh37/hg19 5p13.1(chr5:38747296-39159120)x3	FYB1, OSMR +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1296781	NM_001465.6(FYB1):c.374C>A (p.Ser125Tyr)	FYB1 (S125Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1294076	NM_001465.6(FYB1):c.1817+291T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294073	NM_001465.6(FYB1):c.1136-175C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294072	NM_001465.6(FYB1):c.1135+29T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291513	NM_001465.6(FYB1):c.1908-320C>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289342	NM_001465.6(FYB1):c.1515+322T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288132	NM_001465.6(FYB1):c.1395-144C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288069	NM_001465.6(FYB1):c.1710C>T (p.Asp570=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1287979	NM_001465.6(FYB1):c.1817+15G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280849	NM_001465.6(FYB1):c.2152G>T (p.Val718Phe)	FYB1 (V672F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1280383	NM_001465.6(FYB1):c.1907+268_1907+269dup	FYB1	Duplication (intron variant)	not provided	GBenign
Select item 1280050	NM_001465.6(FYB1):c.1292+298_1292+299insACACCAACTCCT	FYB1	Insertion (intron variant)	not provided	GBenign

<< First< Prev

Page of 2