ClinVar for Gene (Select 10129) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 220

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355927	NM_023037.3(FRY):c.2867A>C (p.Asn956Thr)	FRY (N956T)	Single nucleotide variant (missense variant)	FRY-related condition	GUncertain significance
Select item 3347605	NM_023037.3(FRY):c.3116T>A (p.Leu1039His)	FRY (L1039H)	Single nucleotide variant (missense variant)	FRY-related condition	GUncertain significance
Select item 3279974	NM_023037.3(FRY):c.7558G>A (p.Asp2520Asn)	FRY (D2520N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279973	NM_023037.3(FRY):c.3886G>T (p.Ala1296Ser)	FRY (A1296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279972	NM_023037.3(FRY):c.5244G>A (p.Pro1748=)	FRY	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3279971	NM_023037.3(FRY):c.1427T>G (p.Phe476Cys)	FRY (F476C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279970	NM_023037.3(FRY):c.6514C>G (p.Gln2172Glu)	FRY (Q2172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279969	NM_023037.3(FRY):c.5100C>G (p.Asn1700Lys)	FRY (N1700K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279968	NM_023037.3(FRY):c.6374C>T (p.Thr2125Ile)	FRY (T2125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279967	NM_023037.3(FRY):c.7481G>A (p.Cys2494Tyr)	FRY (C2494Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279966	NM_023037.3(FRY):c.5854A>G (p.Ser1952Gly)	FRY (S1952G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279965	NM_023037.3(FRY):c.7813G>A (p.Val2605Met)	FRY (V2605M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279964	NM_023037.3(FRY):c.5902G>C (p.Gly1968Arg)	FRY (G1968R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279963	NM_023037.3(FRY):c.7081G>A (p.Ala2361Thr)	FRY (A2361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279962	NM_023037.3(FRY):c.8912G>A (p.Ser2971Asn)	FRY (S2971N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279961	NM_023037.3(FRY):c.8671G>A (p.Gly2891Ser)	FRY (G2891S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279960	NM_023037.3(FRY):c.7588G>A (p.Ala2530Thr)	FRY (A2530T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3279959	NM_023037.3(FRY):c.2834C>T (p.Ala945Val)	FRY (A945V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279958	NM_023037.3(FRY):c.1769C>T (p.Pro590Leu)	FRY (P590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3097079	NM_023037.3(FRY):c.8817T>A (p.Ser2939Arg)	FRY (S2939R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097078	NM_023037.3(FRY):c.8701A>G (p.Thr2901Ala)	FRY (T2901A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097077	NM_023037.3(FRY):c.8209G>A (p.Gly2737Arg)	FRY (G2737R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097076	NM_023037.3(FRY):c.8023G>A (p.Ala2675Thr)	FRY (A2675T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097075	NM_023037.3(FRY):c.7828C>T (p.Leu2610Phe)	FRY (L2610F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097073	NM_023037.3(FRY):c.724G>C (p.Ala242Pro)	FRY (A242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097072	NM_023037.3(FRY):c.6979A>G (p.Thr2327Ala)	FRY (T2327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097071	NM_023037.3(FRY):c.6791A>G (p.Asn2264Ser)	FRY (N2264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097070	NM_023037.3(FRY):c.6761A>G (p.Asp2254Gly)	FRY (D2254G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097069	NM_023037.3(FRY):c.650A>G (p.Asn217Ser)	FRY (N217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097068	NM_023037.3(FRY):c.6124G>A (p.Ala2042Thr)	FRY (A2042T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097067	NM_023037.3(FRY):c.5407G>A (p.Ala1803Thr)	FRY (A1803T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097066	NM_023037.3(FRY):c.5011G>A (p.Val1671Ile)	FRY (V1671I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097065	NM_023037.3(FRY):c.4928C>T (p.Ala1643Val)	FRY (A1643V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097064	NM_023037.3(FRY):c.4198G>A (p.Gly1400Arg)	FRY (G1400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097063	NM_023037.3(FRY):c.377G>A (p.Arg126His)	FRY (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097062	NM_023037.3(FRY):c.284C>T (p.Thr95Ile)	FRY (T95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097061	NM_023037.3(FRY):c.2849G>A (p.Gly950Asp)	FRY (G950D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097060	NM_023037.3(FRY):c.2708G>T (p.Ser903Ile)	FRY (S903I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097059	NM_023037.3(FRY):c.2639C>T (p.Ala880Val)	FRY (A880V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097058	NM_023037.3(FRY):c.1967C>T (p.Ser656Leu)	FRY (S656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097057	NM_023037.3(FRY):c.1903C>A (p.His635Asn)	FRY (H635N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097056	NM_023037.3(FRY):c.164A>G (p.Asn55Ser)	FRY (N55S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3026178	NM_023037.3(FRY):c.8046G>A (p.Glu2682=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025940	NM_023037.3(FRY):c.2772A>C (p.Gly924=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024580	GRCh37/hg19 13q12.3-13.1(chr13:29933399-32792968)x3	ALOX5AP, B3GLCT +12 more	Copy number gain	not provided	GUncertain significance
Select item 2672537	NM_023037.3(FRY):c.3022T>C (p.Leu1008=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643730	NM_023037.3(FRY):c.7872C>T (p.Ser2624=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643729	NM_023037.3(FRY):c.7260G>A (p.Ser2420=)	FRY, LOC126861731	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643728	NM_023037.3(FRY):c.6996C>T (p.Phe2332=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643727	NM_023037.3(FRY):c.6771C>T (p.Val2257=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643726	NM_023037.3(FRY):c.6294C>T (p.Ser2098=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643725	NM_023037.3(FRY):c.4866C>G (p.Pro1622=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643724	NM_023037.3(FRY):c.4056G>A (p.Gly1352=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643723	NM_023037.3(FRY):c.3660T>C (p.Phe1220=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643722	NM_023037.3(FRY):c.2349G>A (p.Pro783=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643721	NM_023037.3(FRY):c.282G>A (p.Leu94=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616362	NM_023037.3(FRY):c.4510G>A (p.Val1504Met)	FRY, LOC126861730 (V1504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593792	NM_023037.3(FRY):c.8144A>G (p.Gln2715Arg)	FRY (Q2718R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593207	NM_023037.3(FRY):c.8784A>G (p.Arg2928=)	FRY	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2559077	NM_023037.3(FRY):c.565C>T (p.His189Tyr)	FRY (H189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555826	NM_023037.3(FRY):c.7192G>A (p.Val2398Ile)	FRY (V2398I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535232	NM_023037.3(FRY):c.7084G>A (p.Val2362Ile)	FRY (V2362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533350	NM_023037.3(FRY):c.8951T>A (p.Met2984Lys)	FRY (M2984K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517722	NM_023037.3(FRY):c.7634C>G (p.Pro2545Arg)	FRY (P2545R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488518	NM_023037.3(FRY):c.104C>T (p.Pro35Leu)	FRY (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484571	NM_023037.3(FRY):c.5246T>C (p.Val1749Ala)	FRY (V1749A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479580	NM_023037.3(FRY):c.3550T>C (p.Tyr1184His)	FRY (Y1184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476268	NM_023037.3(FRY):c.8432G>C (p.Gly2811Ala)	FRY (G2814A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475897	NM_023037.3(FRY):c.5243C>T (p.Pro1748Leu)	FRY (P1748L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475353	NM_023037.3(FRY):c.4568G>A (p.Ser1523Asn)	FRY, LOC126861730 (S1523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458539	NM_023037.3(FRY):c.8225G>C (p.Ser2742Thr)	FRY (S2745T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455135	NM_023037.3(FRY):c.7129G>A (p.Val2377Ile)	FRY (V2377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425229	NC_000013.10:g.(?_31033232)_(33638323_?)dup	ALOX5AP, B3GLCT +13 more	Duplication	not provided	GUncertain significance
Select item 2410218	NM_023037.3(FRY):c.8731T>G (p.Cys2911Gly)	FRY (C2911G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402194	NM_023037.3(FRY):c.5519C>A (p.Ser1840Tyr)	FRY (S1840Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396188	NM_023037.3(FRY):c.7793G>A (p.Arg2598His)	FRY (R2598H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395216	NM_023037.3(FRY):c.4954G>A (p.Val1652Met)	FRY (V1652M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391602	NM_023037.3(FRY):c.2410G>A (p.Val804Ile)	FRY (V804I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386957	NM_023037.3(FRY):c.8548G>A (p.Gly2850Ser)	FRY (G2850S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371657	NM_023037.3(FRY):c.7058G>A (p.Arg2353His)	FRY (R2353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358991	NM_023037.3(FRY):c.5893A>G (p.Thr1965Ala)	FRY (T1965A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341740	NM_023037.3(FRY):c.6962A>T (p.Lys2321Met)	FRY (K2321M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341006	NM_023037.3(FRY):c.6757A>G (p.Met2253Val)	FRY (M2253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339885	NM_023037.3(FRY):c.6394A>G (p.Met2132Val)	FRY (M2132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333570	NM_023037.3(FRY):c.8573T>G (p.Met2858Arg)	FRY (M2858R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332338	NM_023037.3(FRY):c.166G>T (p.Val56Leu)	FRY (V56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327616	NM_023037.3(FRY):c.7838C>T (p.Ser2613Phe)	FRY (S2616F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326733	NM_023037.3(FRY):c.5763C>G (p.Asn1921Lys)	FRY (N1921K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310881	NM_023037.3(FRY):c.7177A>G (p.Thr2393Ala)	FRY (T2393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306498	NM_023037.3(FRY):c.3274G>A (p.Ala1092Thr)	FRY (A1092T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302084	NM_023037.3(FRY):c.2383A>G (p.Ile795Val)	FRY (I795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296576	NM_023037.3(FRY):c.607G>A (p.Ala203Thr)	FRY (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294795	NM_023037.3(FRY):c.7634C>A (p.Pro2545His)	FRY (P2545H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291059	NM_023037.3(FRY):c.1859T>C (p.Met620Thr)	FRY (M620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290633	NM_023037.3(FRY):c.245T>C (p.Ile82Thr)	FRY (I82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286105	NM_023037.3(FRY):c.3151A>C (p.Asn1051His)	FRY (N1051H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280924	NM_023037.3(FRY):c.3220A>G (p.Met1074Val)	FRY (M1074V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277911	NM_023037.3(FRY):c.7593C>G (p.Ser2531Arg)	FRY (S2531R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277703	NM_023037.3(FRY):c.4684T>C (p.Phe1562Leu)	FRY (F1562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3