ANKRD50[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150255	GRCh38/hg38 4q28.1(chr4:123215841-125460263)x1	AFG2A, ANKRD50 +17 more	Copy number loss	See cases	GUncertain significance
Select item 59480	GRCh38/hg38 4q28.1(chr4:124055204-126331108)x1	ANKRD50, FAT4 +8 more	Copy number loss	See cases	GPathogenic
Select item 2472550	NM_020337.3(ANKRD50):c.4148G>T (p.Arg1383Leu)	ANKRD50 (R1204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381347	NM_020337.3(ANKRD50):c.4121T>C (p.Val1374Ala)	ANKRD50 (V1195A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382321	NM_020337.3(ANKRD50):c.4100A>G (p.Tyr1367Cys)	ANKRD50 (Y1367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297742	NM_020337.3(ANKRD50):c.4058G>C (p.Gly1353Ala)	ANKRD50 (G1353A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543781	NM_020337.3(ANKRD50):c.3973G>A (p.Glu1325Lys)	ANKRD50 (E1325K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204112	NM_020337.3(ANKRD50):c.3943A>G (p.Thr1315Ala)	ANKRD50 (T1136A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562006	NM_020337.3(ANKRD50):c.3925C>T (p.Pro1309Ser)	ANKRD50 (P1130S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231182	NM_020337.3(ANKRD50):c.3848G>A (p.Gly1283Glu)	ANKRD50 (G1283E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126871	NM_020337.3(ANKRD50):c.3808G>T (p.Gly1270Trp)	ANKRD50 (G1091W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267945	NM_020337.3(ANKRD50):c.3694A>G (p.Ile1232Val)	ANKRD50 (I1232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297759	NM_020337.3(ANKRD50):c.3614C>T (p.Pro1205Leu)	ANKRD50 (P1205L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126870	NM_020337.3(ANKRD50):c.3598A>G (p.Thr1200Ala)	ANKRD50 (T1021A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655073	NM_020337.3(ANKRD50):c.3588A>G (p.Ser1196=)	ANKRD50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515358	NM_020337.3(ANKRD50):c.3524A>G (p.Gln1175Arg)	ANKRD50 (Q996R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230305	NM_020337.3(ANKRD50):c.3520C>T (p.Arg1174Trp)	ANKRD50 (R1174W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126869	NM_020337.3(ANKRD50):c.3515T>G (p.Val1172Gly)	ANKRD50 (V993G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297696	NM_020337.3(ANKRD50):c.3446C>T (p.Ser1149Leu)	ANKRD50 (S1149L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614957	NM_020337.3(ANKRD50):c.3442C>T (p.Pro1148Ser)	ANKRD50 (P1148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467512	NM_020337.3(ANKRD50):c.3436A>T (p.Met1146Leu)	ANKRD50 (M1146L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546887	NM_020337.3(ANKRD50):c.3418A>G (p.Ser1140Gly)	ANKRD50 (S961G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560066	NM_020337.3(ANKRD50):c.3334C>G (p.Pro1112Ala)	ANKRD50 (P1112A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126868	NM_020337.3(ANKRD50):c.3326C>G (p.Ser1109Cys)	ANKRD50 (S1109C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596262	NM_020337.3(ANKRD50):c.3109G>A (p.Val1037Ile)	ANKRD50 (V1037I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126867	NM_020337.3(ANKRD50):c.3103G>C (p.Gly1035Arg)	ANKRD50 (G1035R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250993	NM_020337.3(ANKRD50):c.2960G>C (p.Cys987Ser)	ANKRD50 (C808S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126866	NM_020337.3(ANKRD50):c.2944G>A (p.Ala982Thr)	ANKRD50 (A803T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324630	NM_020337.3(ANKRD50):c.2882T>A (p.Met961Lys)	ANKRD50 (M782K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237320	NM_020337.3(ANKRD50):c.2752C>T (p.Arg918Trp)	ANKRD50 (R739W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126865	NM_020337.3(ANKRD50):c.2672G>A (p.Gly891Asp)	ANKRD50 (G891D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126864	NM_020337.3(ANKRD50):c.2642G>A (p.Arg881Gln)	ANKRD50 (R702Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273997	NM_020337.3(ANKRD50):c.2636A>G (p.Asp879Gly)	ANKRD50 (D700G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126863	NM_020337.3(ANKRD50):c.2350C>T (p.Pro784Ser)	ANKRD50 (P784S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126862	NM_020337.3(ANKRD50):c.2344C>T (p.Arg782Cys)	ANKRD50 (R603C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126861	NM_020337.3(ANKRD50):c.2291T>C (p.Val764Ala)	ANKRD50 (V585A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292840	NM_020337.3(ANKRD50):c.2218G>A (p.Glu740Lys)	ANKRD50 (E561K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398523	NM_020337.3(ANKRD50):c.2213G>A (p.Gly738Asp)	ANKRD50 (G559D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126860	NM_020337.3(ANKRD50):c.2086C>G (p.Leu696Val)	ANKRD50 (L517V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126859	NM_020337.3(ANKRD50):c.2059A>G (p.Met687Val)	ANKRD50 (M508V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297738	NM_020337.3(ANKRD50):c.2000G>A (p.Gly667Asp)	ANKRD50 (G667D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655074	NM_020337.3(ANKRD50):c.1701G>A (p.Arg567=)	ANKRD50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480839	NM_020337.3(ANKRD50):c.1651A>G (p.Asn551Asp)	ANKRD50 (N372D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126857	NM_020337.3(ANKRD50):c.1603G>A (p.Gly535Arg)	ANKRD50 (G356R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347365	NM_020337.3(ANKRD50):c.1588A>G (p.Thr530Ala)	ANKRD50 (T530A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353382	NM_020337.3(ANKRD50):c.1586G>A (p.Arg529Gln)	ANKRD50 (R350Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297686	NM_020337.3(ANKRD50):c.1573G>A (p.Glu525Lys)	ANKRD50 (E346K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655075	NM_020337.3(ANKRD50):c.1563C>T (p.Ala521=)	ANKRD50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516763	NM_020337.3(ANKRD50):c.1537C>T (p.Arg513Cys)	ANKRD50 (R334C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359523	NM_020337.3(ANKRD50):c.1406C>T (p.Ala469Val)	ANKRD50 (A290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297705	NM_020337.3(ANKRD50):c.1399G>C (p.Glu467Gln)	ANKRD50 (E288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297727	NM_020337.3(ANKRD50):c.1387A>G (p.Asn463Asp)	ANKRD50 (N463D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266130	NM_020337.3(ANKRD50):c.1358A>G (p.Gln453Arg)	ANKRD50 (Q274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536047	NM_020337.3(ANKRD50):c.1310C>T (p.Ala437Val)	ANKRD50 (A258V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554031	NM_020337.3(ANKRD50):c.1186C>T (p.Leu396Phe)	ANKRD50 (L217F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518015	NM_020337.3(ANKRD50):c.1112A>G (p.His371Arg)	ANKRD50 (H371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126856	NM_020337.3(ANKRD50):c.1063A>C (p.Asn355His)	ANKRD50 (N176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126872	NM_020337.3(ANKRD50):c.957G>T (p.Met319Ile)	ANKRD50 (M319I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597749	NM_020337.3(ANKRD50):c.787G>A (p.Val263Ile)	ANKRD50 (V84I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297716	NM_020337.3(ANKRD50):c.754A>G (p.Ile252Val)	ANKRD50 (I252V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266424	NM_020337.3(ANKRD50):c.640G>A (p.Val214Ile)	ANKRD50 (V35I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382081	NM_020337.3(ANKRD50):c.598A>T (p.Ile200Phe)	ANKRD50 (I21F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297748	NM_020337.3(ANKRD50):c.407G>A (p.Arg136His)	ANKRD50 (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522425	NM_020337.3(ANKRD50):c.294T>A (p.Ser98Arg)	ANKRD50 (S98R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508945	NM_020337.3(ANKRD50):c.256C>G (p.Leu86Val)	ANKRD50 (L86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126858	NM_020337.3(ANKRD50):c.196G>A (p.Gly66Arg)	ANKRD50 (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250211	NM_020337.3(ANKRD50):c.161T>C (p.Val54Ala)	ANKRD50 (V54A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296470	NM_020337.3(ANKRD50):c.103C>T (p.His35Tyr)	ANKRD50 (H35Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494315	NM_020337.3(ANKRD50):c.26T>C (p.Val9Ala)	ANKRD50 (V9A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454577	NM_020337.3(ANKRD50):c.11C>T (p.Pro4Leu)	ANKRD50 (P4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 689130	GRCh37/hg19 4q28.1(chr4:125111554-126603039)x3	ANKRD50, FAT4	Copy number gain	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688391	GRCh37/hg19 4q28.1(chr4:124468529-125637375)x3	ANKRD50	Copy number gain	not provided	GUncertain significance
Select item 635942	Single allele	SMIM43, SNHG8 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 442151	GRCh37/hg19 4q28.1(chr4:124399598-125624766)x3	ANKRD50	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 226172	GRCh37/hg19 4q28.1(chr4:125251081-128286629)	ANKRD50, FAT4	Copy number loss	Abnormal esophagus morphology	GLikely pathogenic

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Items: 97