ClinVar for Gene (Select 59067) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246755	NC_000004.11:g.(?_121616266)_(124323706_?)del	ADAD1, AFG2A +17 more	Deletion	not provided	GUncertain significance
Select item 3062807	GRCh37/hg19 4q27-28.1(chr4:123302296-124083892)x3	ADAD1, AFG2A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +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 3055532	NM_021803.4(IL21):c.*3A>C	IL21	Single nucleotide variant (3 prime UTR variant)	IL21-related disorder	GBenign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 3008882	NM_021803.4(IL21):c.351A>G (p.Lys117=)	IL21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007852	NM_021803.4(IL21):c.118C>T (p.Arg40Cys)	IL21, IL21-AS1 +1 more (R40C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3001686	NM_021803.4(IL21):c.128T>C (p.Ile43Thr)	IL21, IL21-AS1 +1 more (I43T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2999870	NM_021803.4(IL21):c.204+8C>A	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995480	NM_021803.4(IL21):c.266C>T (p.Thr89Ile)	IL21 (T89I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967863	NM_021803.4(IL21):c.291T>C (p.Asn97=)	IL21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902121	NM_021803.4(IL21):c.175G>C (p.Glu59Gln)	IL21, IL21-AS1 +1 more (E59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895302	NM_021803.4(IL21):c.168+20A>C	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858847	NM_021803.4(IL21):c.336A>C (p.Ala112=)	IL21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847575	NM_021803.4(IL21):c.322C>T (p.Pro108Ser)	IL21 (P108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826998	NM_021803.4(IL21):c.444T>C (p.Ile148=)	IL21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820716	NM_021803.4(IL21):c.16G>C (p.Gly6Arg)	IL21, IL21-AS1 +1 more (G6R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2814950	NM_021803.4(IL21):c.360+16G>C	IL21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806976	NM_021803.4(IL21):c.53T>C (p.Ile18Thr)	IL21, IL21-AS1 +1 more (I18T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2798329	NM_021803.4(IL21):c.425C>T (p.Ser142Leu)	IL21 (S142L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797615	NM_021803.4(IL21):c.360+6A>C	IL21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2793528	NM_021803.4(IL21):c.360+16G>A	IL21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759037	NM_021803.4(IL21):c.168+18A>G	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730518	NM_021803.4(IL21):c.168+17C>G	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728169	NM_021803.4(IL21):c.394C>A (p.Pro132Thr)	IL21 (P132T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725727	NM_021803.4(IL21):c.206C>A (p.Thr69Lys)	IL21 (T69K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2655070	NM_021803.4(IL21):c.39C>T (p.Ile13=)	IL21, IL21-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	ADAD1, NDNF +17 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2409333	NM_021803.4(IL21):c.335C>T (p.Ala112Val)	IL21 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190701	NM_021803.4(IL21):c.439-18G>A	IL21	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2154057	NM_021803.4(IL21):c.333T>A (p.Asn111Lys)	IL21 (N111K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142675	NM_021803.4(IL21):c.439-19C>T	IL21	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2086558	NM_021803.4(IL21):c.394C>T (p.Pro132Ser)	IL21 (P132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080752	NM_021803.4(IL21):c.298A>G (p.Ile100Val)	IL21 (I100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034453	NM_021803.4(IL21):c.361-18T>G	IL21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032567	NM_021803.4(IL21):c.487T>C (p.Ter163Arg)	IL21	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2029722	NM_021803.4(IL21):c.204+20T>C	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992121	NM_021803.4(IL21):c.317A>G (p.Lys106Arg)	IL21 (K106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974406	NM_021803.4(IL21):c.72C>T (p.Val24=)	IL21, IL21-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1951688	NM_021803.4(IL21):c.485C>G (p.Ser162Cys)	IL21 (S162C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1944308	NM_021803.4(IL21):c.165C>T (p.Asp55=)	IL21, IL21-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939066	NM_021803.4(IL21):c.52A>G (p.Ile18Val)	IL21-AS1, LOC126807147 +1 more (I18V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1937156	NM_021803.4(IL21):c.438+16T>A	IL21 (F152I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1717528	NM_021803.4(IL21):c.311A>G (p.Lys104Arg)	IL21 (K104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669430	NM_021803.4(IL21):c.361-7T>C	IL21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665708	NM_021803.4(IL21):c.169-20C>T	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638346	NM_021803.4(IL21):c.204+18T>A	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637755	NM_021803.4(IL21):c.361-23_361-18del	IL21	Deletion (intron variant)	not provided	GLikely benign
Select item 1630329	NM_021803.4(IL21):c.168+15G>A	LOC126807147, IL21 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542038	NM_021803.4(IL21):c.361-19C>T	IL21	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1515796	NM_021803.4(IL21):c.438+1_438+42del	IL21	Deletion (stop lost +2 more)	not provided	GUncertain significance
Select item 1503705	NM_021803.4(IL21):c.438+6T>C	IL21	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1483462	NM_021803.4(IL21):c.130G>A (p.Asp44Asn)	IL21, IL21-AS1 +1 more (D44N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1473555	NM_021803.4(IL21):c.92G>A (p.Gly31Asp)	IL21, IL21-AS1 +1 more (G31D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1471323	NM_021803.4(IL21):c.438G>T (p.Lys146Asn)	IL21 (K146N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467806	NM_021803.4(IL21):c.358C>A (p.Leu120Ile)	IL21 (L120I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450861	NM_021803.4(IL21):c.293T>C (p.Val98Ala)	IL21 (V98A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450062	NC_000004.11:g.(?_123533865)_(123534103_?)dup	IL21	Duplication	not provided	GUncertain significance
Select item 1445607	NM_021803.4(IL21):c.472G>A (p.Gly158Arg)	IL21 (G158R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1439105	NM_021803.4(IL21):c.100C>T (p.Arg34Cys)	IL21, IL21-AS1 +1 more (R34C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1410799	NM_021803.4(IL21):c.319C>T (p.Pro107Ser)	IL21 (P107S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408337	NM_021803.4(IL21):c.405A>T (p.Glu135Asp)	IL21 (E135D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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	MYOZ2, PRDM5 +48 more	Copy number loss	not provided	GPathogenic
Select item 1269619	NM_021803.4(IL21):c.*45G>A	IL21	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1237452	NM_021803.4(IL21):c.361-330T>C	IL21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235132	NM_021803.4(IL21):c.360+150_360+154del	IL21	Deletion (intron variant)	not provided	GBenign
Select item 1229892	NM_021803.4(IL21):c.*31C>T	IL21	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222331	NM_021803.4(IL21):c.360+139dup	IL21	Duplication (intron variant)	not provided	GBenign
Select item 1109300	NM_021803.4(IL21):c.324T>C (p.Pro108=)	IL21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088784	NM_021803.4(IL21):c.168+9A>G	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1084283	NM_021803.4(IL21):c.205-10T>C	IL21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080706	NM_021803.4(IL21):c.222A>G (p.Ser74=)	IL21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1058639	NM_021803.4(IL21):c.117G>A (p.Met39Ile)	LOC126807147, IL21 +1 more (M39I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1052639	NM_021803.4(IL21):c.118C>G (p.Arg40Gly)	IL21, IL21-AS1 +1 more (R40G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1047806	NM_021803.4(IL21):c.337G>A (p.Gly113Arg)	IL21 (G113R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1041152	NM_021803.4(IL21):c.37A>G (p.Ile13Val)	IL21, IL21-AS1 +1 more (I13V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 963258	NM_021803.4(IL21):c.470A>T (p.His157Leu)	IL21 (H157L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 961581	NM_021803.4(IL21):c.282G>T (p.Arg94Ser)	IL21 (R94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953596	NM_021803.4(IL21):c.273C>A (p.Asn91Lys)	IL21 (N91K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 948791	NM_021803.4(IL21):c.319C>G (p.Pro107Ala)	IL21 (P107A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 945417	NM_021803.4(IL21):c.119G>A (p.Arg40His)	IL21, IL21-AS1 +1 more (R40H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 939799	NM_021803.4(IL21):c.47T>C (p.Met16Thr)	IL21, IL21-AS1 +1 more (M16T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 858592	NM_021803.4(IL21):c.475A>C (p.Ser159Arg)	IL21 (S159R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 856120	NM_021803.4(IL21):c.277G>A (p.Glu93Lys)	IL21 (E93K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854415	NM_021803.4(IL21):c.83G>A (p.Ser28Asn)	IL21, IL21-AS1 +1 more (S28N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 809678	NM_021803.4(IL21):c.2T>C (p.Met1Thr)	IL21, IL21-AS1 +1 more (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 799153	NM_021803.4(IL21):c.204+7C>T	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717650	NM_021803.4(IL21):c.168+8T>C	IL21, IL21-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716337	NM_021803.4(IL21):c.471C>T (p.His157=)	IL21	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 664288	NM_021803.4(IL21):c.451C>T (p.His151Tyr)	IL21 (H151Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 635942	Single allele	ADAD1, ANKRD50 +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	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic

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