PRRC2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 2307834	NM_004638.4(PRRC2A):c.109G>A (p.Ala37Thr)	PRRC2A (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047859	NM_004638.4(PRRC2A):c.210A>G (p.Lys70=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GLikely benign
Select item 3057811	NM_004638.4(PRRC2A):c.222C>T (p.Pro74=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GLikely benign
Select item 3219591	NM_004638.4(PRRC2A):c.314C>T (p.Pro105Leu)	PRRC2A (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059974	NM_004638.4(PRRC2A):c.317C>T (p.Pro106Leu)	PRRC2A (P106L)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GBenign
Select item 2353247	NM_004638.4(PRRC2A):c.335C>A (p.Pro112Gln)	PRRC2A (P112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038722	NM_004638.4(PRRC2A):c.391-6C>A	PRRC2A	Single nucleotide variant (intron variant)	PRRC2A-related disorder	GLikely benign
Select item 3219601	NM_004638.4(PRRC2A):c.415G>A (p.Val139Ile)	PRRC2A (V139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219604	NM_004638.4(PRRC2A):c.433G>A (p.Ala145Thr)	PRRC2A (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050606	NM_004638.4(PRRC2A):c.488C>T (p.Ser163Leu)	PRRC2A (S163L)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GBenign
Select item 2325756	NM_004638.4(PRRC2A):c.541A>G (p.Lys181Glu)	PRRC2A (K181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457238	NM_004638.4(PRRC2A):c.545C>G (p.Ala182Gly)	PRRC2A (A182G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401614	NM_004638.4(PRRC2A):c.547G>T (p.Ala183Ser)	PRRC2A (A183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522928	NM_004638.4(PRRC2A):c.575C>T (p.Ser192Leu)	PRRC2A (S192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219616	NM_004638.4(PRRC2A):c.599G>A (p.Arg200His)	PRRC2A (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277970	NM_004638.4(PRRC2A):c.608A>T (p.Asn203Ile)	PRRC2A (N203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056017	NM_004638.4(PRRC2A):c.636G>T (p.Gly212=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GBenign
Select item 3219621	NM_004638.4(PRRC2A):c.637C>T (p.Arg213Cys)	PRRC2A (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337215	NM_004638.4(PRRC2A):c.670A>C (p.Lys224Gln)	PRRC2A (K224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590417	NM_004638.4(PRRC2A):c.691C>T (p.Pro231Ser)	PRRC2A (P231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477304	NM_004638.4(PRRC2A):c.692C>T (p.Pro231Leu)	PRRC2A (P231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042147	NM_004638.4(PRRC2A):c.760-10C>G	PRRC2A	Single nucleotide variant (intron variant)	PRRC2A-related disorder	GLikely benign
Select item 2312555	NM_004638.4(PRRC2A):c.773A>G (p.Tyr258Cys)	PRRC2A (Y258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219622	NM_004638.4(PRRC2A):c.782T>G (p.Phe261Cys)	PRRC2A (F261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376182	NM_004638.4(PRRC2A):c.841C>T (p.Arg281Cys)	PRRC2A (R281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492860	NM_004638.4(PRRC2A):c.842G>A (p.Arg281His)	PRRC2A (R281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523393	NM_004638.4(PRRC2A):c.850C>T (p.Arg284Cys)	PRRC2A (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219623	NM_004638.4(PRRC2A):c.857C>T (p.Ala286Val)	PRRC2A (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053072	NM_004638.4(PRRC2A):c.858G>C (p.Ala286=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GLikely benign
Select item 2206742	NM_004638.4(PRRC2A):c.883A>G (p.Met295Val)	PRRC2A (M295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365167	NM_004638.4(PRRC2A):c.887G>A (p.Arg296His)	PRRC2A (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054765	NM_004638.4(PRRC2A):c.923A>G (p.Lys308Arg)	PRRC2A (K308R)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GUncertain significance
Select item 2484344	NM_004638.4(PRRC2A):c.959A>G (p.Gln320Arg)	PRRC2A (Q320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060526	NM_004638.4(PRRC2A):c.1062T>A (p.Gly354=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GBenign
Select item 3219572	NM_004638.4(PRRC2A):c.1093T>G (p.Ser365Ala)	PRRC2A (S365A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244907	NM_004638.4(PRRC2A):c.1112C>A (p.Pro371His)	PRRC2A (P371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407821	NM_004638.4(PRRC2A):c.1190G>A (p.Arg397Gln)	PRRC2A (R397Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219573	NM_004638.4(PRRC2A):c.1235T>A (p.Leu412Gln)	PRRC2A (L412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282135	NM_004638.4(PRRC2A):c.1240C>T (p.Pro414Ser)	PRRC2A (P414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404091	NM_004638.4(PRRC2A):c.1247A>C (p.His416Pro)	PRRC2A (H416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302400	NM_004638.4(PRRC2A):c.1258G>T (p.Ala420Ser)	PRRC2A (A420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384894	NM_004638.4(PRRC2A):c.1261G>A (p.Gly421Arg)	PRRC2A (G421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219574	NM_004638.4(PRRC2A):c.1295G>A (p.Arg432His)	PRRC2A (R432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219575	NM_004638.4(PRRC2A):c.1406G>A (p.Arg469Gln)	PRRC2A (R469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045312	NM_004638.4(PRRC2A):c.1420GAG[1] (p.Glu475del)	PRRC2A (E475del)	Microsatellite (inframe deletion)	PRRC2A-related disorder	GUncertain significance
Select item 3049498	NM_004638.4(PRRC2A):c.1479C>T (p.Leu493=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GLikely benign
Select item 2336727	NM_004638.4(PRRC2A):c.1498C>T (p.Pro500Ser)	PRRC2A (P500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279107	NM_004638.4(PRRC2A):c.1521G>T (p.Glu507Asp)	PRRC2A (E507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055998	NM_004638.4(PRRC2A):c.1533_1544del (p.508PAAP[1])	PRRC2A	Deletion (inframe deletion)	PRRC2A-related disorder	GBenign
Select item 3219576	NM_004638.4(PRRC2A):c.1543C>T (p.Pro515Ser)	PRRC2A (P515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055620	NM_004638.4(PRRC2A):c.1544C>T (p.Pro515Leu)	PRRC2A (P515L)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GBenign
Select item 2379652	NM_004638.4(PRRC2A):c.1553C>T (p.Pro518Leu)	PRRC2A (P518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252829	NM_004638.4(PRRC2A):c.1583T>A (p.Leu528His)	PRRC2A (L528H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656405	NM_004638.4(PRRC2A):c.1584C>T (p.Leu528=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder +1 more	GLikely benign
Select item 3060200	NM_004638.4(PRRC2A):c.1631C>A (p.Thr544Lys)	PRRC2A (T544K)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GBenign
Select item 2494958	NM_004638.4(PRRC2A):c.1646C>T (p.Pro549Leu)	PRRC2A (P549L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037429	NM_004638.4(PRRC2A):c.1675C>T (p.Pro559Ser)	PRRC2A (P559S)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GBenign
Select item 3219578	NM_004638.4(PRRC2A):c.1693G>C (p.Ala565Pro)	PRRC2A (A565P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251386	NM_004638.4(PRRC2A):c.1910C>T (p.Pro637Leu)	PRRC2A (P637L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538865	NM_004638.4(PRRC2A):c.1949A>G (p.Gln650Arg)	PRRC2A (Q650R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486955	NM_004638.4(PRRC2A):c.1984C>T (p.His662Tyr)	PRRC2A (H662Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219579	NM_004638.4(PRRC2A):c.1985A>C (p.His662Pro)	PRRC2A (H662P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056056	NM_004638.4(PRRC2A):c.2088A>C (p.Pro696=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GBenign
Select item 3056032	NM_004638.4(PRRC2A):c.2094G>C (p.Pro698=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GBenign
Select item 2395171	NM_004638.4(PRRC2A):c.2165G>A (p.Arg722Gln)	PRRC2A (R722Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219580	NM_004638.4(PRRC2A):c.2246A>G (p.His749Arg)	PRRC2A (H749R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521750	NM_004638.4(PRRC2A):c.2293A>G (p.Ser765Gly)	PRRC2A (S765G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352064	NM_004638.4(PRRC2A):c.2312G>A (p.Arg771His)	PRRC2A (R771H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229658	NM_004638.4(PRRC2A):c.2320C>T (p.Pro774Ser)	PRRC2A (P774S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330359	NM_004638.4(PRRC2A):c.2371T>C (p.Trp791Arg)	PRRC2A (W791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059728	NM_004638.4(PRRC2A):c.2376A>G (p.Val792=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GBenign
Select item 3035340	NM_004638.4(PRRC2A):c.2378_2380del (p.Gly793del)	PRRC2A (G793del)	Deletion (inframe deletion)	PRRC2A-related disorder	GBenign
Select item 3041606	NM_004638.4(PRRC2A):c.2410C>T (p.Arg804Cys)	PRRC2A (R804C)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GBenign
Select item 2246953	NM_004638.4(PRRC2A):c.2411G>A (p.Arg804His)	PRRC2A (R804H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385441	NM_004638.4(PRRC2A):c.2426C>A (p.Pro809His)	PRRC2A (P809H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045180	NM_004638.4(PRRC2A):c.2442G>A (p.Ala814=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GLikely benign
Select item 2341284	NM_004638.4(PRRC2A):c.2451T>A (p.Asp817Glu)	PRRC2A (D817E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219581	NM_004638.4(PRRC2A):c.2558G>A (p.Arg853His)	PRRC2A (R853H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219582	NM_004638.4(PRRC2A):c.2576C>T (p.Pro859Leu)	PRRC2A (P859L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219583	NM_004638.4(PRRC2A):c.2624A>G (p.Lys875Arg)	PRRC2A (K875R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485752	NM_004638.4(PRRC2A):c.2653C>A (p.Pro885Thr)	PRRC2A (P885T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3044248	NM_004638.4(PRRC2A):c.2712C>A (p.Arg904=)	PRRC2A	Single nucleotide variant (synonymous variant)	PRRC2A-related disorder	GBenign
Select item 3219584	NM_004638.4(PRRC2A):c.2719G>A (p.Gly907Arg)	PRRC2A (G907R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219586	NM_004638.4(PRRC2A):c.2804G>A (p.Arg935His)	PRRC2A (R935H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039272	NM_004638.4(PRRC2A):c.2811C>G (p.Ile937Met)	PRRC2A (I937M)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GBenign
Select item 3219587	NM_004638.4(PRRC2A):c.2843G>T (p.Arg948Leu)	PRRC2A (R948L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232382	NM_004638.4(PRRC2A):c.2875A>G (p.Thr959Ala)	PRRC2A (T959A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327939	NM_004638.4(PRRC2A):c.2884G>A (p.Glu962Lys)	PRRC2A (E962K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206741	NM_004638.4(PRRC2A):c.2905C>T (p.Leu969Phe)	PRRC2A (L969F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038649	NM_004638.4(PRRC2A):c.2920G>C (p.Glu974Gln)	PRRC2A (E974Q)	Single nucleotide variant (missense variant)	PRRC2A-related disorder	GLikely benign
Select item 3219588	NM_004638.4(PRRC2A):c.2954A>G (p.Lys985Arg)	PRRC2A (K985R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609035	NM_004638.4(PRRC2A):c.2984A>G (p.Lys995Arg)	PRRC2A (K995R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219589	NM_004638.4(PRRC2A):c.2998A>C (p.Asn1000His)	PRRC2A (N1000H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252884	NM_004638.4(PRRC2A):c.2999A>G (p.Asn1000Ser)	PRRC2A (N1000S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301946	NM_004638.4(PRRC2A):c.3005A>T (p.Asn1002Ile)	PRRC2A (N1002I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374382	NM_004638.4(PRRC2A):c.3017C>T (p.Ala1006Val)	PRRC2A (A1006V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267872	NM_004638.4(PRRC2A):c.3028C>T (p.Arg1010Trp)	PRRC2A (R1010W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307473	NM_004638.4(PRRC2A):c.3029G>A (p.Arg1010Gln)	PRRC2A (R1010Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603446	NM_004638.4(PRRC2A):c.3041C>G (p.Ser1014Trp)	PRRC2A (S1014W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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