ClinVar for MedGen (Select 115918) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996695	NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	LOC126805688, YARS1 (F269S)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +5 more	GPathogenic/Likely pathogenic
Select item 549660	NC_000023.10:g.97984949_98010783del25835	LINC03077	Deletion	Primary amenorrhea	GUncertain significance
Select item 549659	NM_006729.4(DIAPH2):c.3242-79706_3242-26582dup	DIAPH2, DIAPH2-AS1 +1 more	Duplication	Primary amenorrhea	GLikely pathogenic
Select item 549658	NC_000023.10:g.74772380_74826319del53940		Deletion	Primary amenorrhea	GLikely benign
Select item 549657	Single allele	STS, PNPLA4 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549656	NC_000023.10:g.50653777_50689335del35559	BMP15	Deletion	Primary amenorrhea	GPathogenic
Select item 549655	NC_000023.10:g.23209046_23463336del254291	LOC130068044, PTCHD1 +1 more	Deletion	Primary amenorrhea	GLikely benign
Select item 549654	NC_000023.11:g.1435054_1493581dup	ASMTL, P2RY8	Duplication	Primary amenorrhea	GLikely benign
Select item 549653	NC_000023.10:g.151638056_151743864del105809		Deletion	Primary amenorrhea	GLikely benign
Select item 549652	Single allele	ARHGAP6, MSL3 +1 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549651	Single allele	ARSA, SHANK3	Duplication	Primary amenorrhea	GLikely benign
Select item 549650	NC_000021.8:g.22418118_22450219del32102	NCAM2	Deletion	Primary amenorrhea	GLikely benign
Select item 549649	NM_006526.2(ZNF217):c.561_22199dup	LOC101927770, TSHZ2 +1 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549648	NC_000020.10:g.51258881_51372398del113518	LINC01524	Deletion	Primary amenorrhea	GUncertain significance
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549646	NC_000019.9:g.23624728_24054225del429498	LOC125371498, LOC130064105 +5 more	Deletion	Primary amenorrhea	GLikely benign
Select item 549645	NC_000019.10:g.17871184_17932288dup	LOC130063962, LOC130063963 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549644	NC_000018.10:g.62431580_62441327del		Deletion	Primary amenorrhea	GUncertain significance
Select item 549643	NC_000016.10:g.56402918_56428075dup	AMFR, LOC130059041	Duplication	Primary amenorrhea	GUncertain significance
Select item 549642	NC_000015.9:g.89595324_89652892del57569	ABHD2, CARMAL +3 more	Deletion	Primary amenorrhea	GLikely benign
Select item 549641	NM_001365242.1(CPEB1):c.-98+1610_-98+5362del	CPEB1	Deletion (intron variant)	Primary amenorrhea	GUncertain significance
Select item 549640	NC_000015.9:g.83214012_84812693del1598682	ADAMTSL3, AP3B2 +11 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 549639	NC_000015.9:g.34125784_34151995del26212	AVEN, LOC126862094 +2 more	Deletion	Primary amenorrhea	GUncertain significance
Select item 549638	NC_000014.8:g.54195768_54215968del20201	BMP4, LINC02331	Deletion	Primary amenorrhea	GUncertain significance
Select item 549637	NR_033829.1(MIR4500HG):n.58_128+41006dup	MIR4500HG	Duplication	Primary amenorrhea	GLikely benign
Select item 549636	NC_000012.12:g.42127457_42199952dup	GXYLT1, LOC129390439 +4 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549635	NC_000011.10:g.5433500_5475233dup	OR51B5, OR51I1 +1 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549634	NR_147836.1(LINC02714):n.599-7397_140620dup	LINC02714, LOC126861408	Duplication	Primary amenorrhea	GLikely benign
Select item 549633	NC_000011.9:g.105126944_105347752del220809	LOC126861323	Deletion	Primary amenorrhea	GLikely benign
Select item 549632	NC_000010.11:g.33846064_33943640dup	LINC02629, LOC126860913	Duplication	Primary amenorrhea	GUncertain significance
Select item 549631	NC_000010.11:g.133468178_133591019dup	CYP2E1, LOC110599585 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549630	NC_000010.11:g.133468178_133565257dup	CYP2E1, LOC110599585 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549629	NC_000010.11:g.133468178_133564028dup	CYP2E1, LOC110599585 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549628	NC_000010.11:g.133438823_133565257dup	CYP2E1, LOC110599585 +8 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549627	NC_000010.10:g.135252327_135378761del126435	CYP2E1, LOC110599585 +8 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 549626	Single allele	WDR37, ADARB2	Duplication	Primary amenorrhea	GLikely benign
Select item 549625	NC_000009.12:g.75502958_76045032dup	LOC126860645, LOC126860646 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549624	NC_000009.11:g.2654203_2668811del14609	VLDLR	Deletion	Primary amenorrhea	GUncertain significance
Select item 549623	NC_000009.11:g.24242825_24310533del67709		Deletion	Primary amenorrhea	GUncertain significance
Select item 549622	NC_000009.11:g.17298850_17357754del58905	CNTLN, LOC110120694	Deletion	Primary amenorrhea	GLikely benign
Select item 549621	NC_000009.11:g.17295644_17364986del69343	CNTLN, LOC110120694	Deletion	Primary amenorrhea	GLikely benign
Select item 549620	NC_000008.11:g.90692712_90718088dup		Duplication	Primary amenorrhea	GLikely benign
Select item 549619	NC_000008.10:g.8790358_8891761del101404	ERI1, LOC113788294 +1 more	Deletion	Primary amenorrhea	GLikely benign
Select item 549618	NC_000008.11:g.23671119_23712463dup	LOC130000041, LOC130000042 +2 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549617	NC_000008.10:g.13034651_13120326del85676	DLC1	Deletion	Primary amenorrhea	GLikely benign
Select item 549616	NC_000008.10:g.104306192_104334440del28249	FZD6, LOC105369147 +2 more	Deletion	Primary amenorrhea	GUncertain significance
Select item 549615	NC_000007.14:g.39960093_40104664dup	CDK13, LOC129998294	Duplication	Primary amenorrhea	GLikely benign
Select item 549614	NC_000007.13:g.107262480_107286241del23762	BCAP29, DUS4L-BCAP29 +1 more	Deletion	Primary amenorrhea	GLikely benign
Select item 549613	NC_000006.12:g.7075305_7111311dup	LOC129995703, LOC129995704 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549612	NC_000006.12:g.299363_378956dup	DUSP22, LOC126859546 +23 more	Duplication	Primary amenorrhea	GBenign
Select item 549611	NC_000006.11:g.283968_375949del91982	DUSP22, LOC126859546 +27 more	Deletion	Primary amenorrhea	GBenign
Select item 549610	NC_000006.11:g.279667_378956del99290	DUSP22, LOC126859546 +28 more	Deletion	Primary amenorrhea	GBenign
Select item 549609	NC_000006.11:g.259881_389482del129602	DUSP22, LOC126859546 +28 more	Deletion	Primary amenorrhea	GBenign
Select item 549608	NC_000006.12:g.259881_378956dup	DUSP22, LOC126859546 +28 more	Duplication	Primary amenorrhea	GBenign
Select item 549607	NC_000006.11:g.259881_378956del119076	DUSP22, LOC126859546 +28 more	Deletion	Primary amenorrhea	GBenign
Select item 549606	NR_104475.1(DUSP22):n.-32176_504+10738dup	DUSP22, LOC129995536 +4 more	Duplication	Primary amenorrhea	GBenign
Select item 549605	NC_000006.11:g.259528_293493del33966	DUSP22, LOC129995536 +2 more	Deletion	Primary amenorrhea	GBenign
Select item 549604	NC_000006.12:g.170299941_170556913dup	FAM120B, LOC110121051 +9 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549603	NC_000005.9:g.70308101_70657747del349647	GTF2H2, LINC02197 +3 more	Deletion	Primary amenorrhea	GBenign
Select item 549602	NC_000005.9:g.69767948_70345611del577664	GTF2H2, LOC111089946 +4 more	Deletion	Primary amenorrhea	GBenign
Select item 549601	NC_000005.9:g.69741318_70422356del681039	GTF2H2, LOC111089946 +5 more	Deletion	Primary amenorrhea	GBenign
Select item 549600	NC_000005.10:g.69553767_71361920dup	GTF2H2, GTF2H2C +11 more	Duplication	Primary amenorrhea	GBenign
Select item 549599	NC_000005.9:g.68818173_70657747del1839575	GTF2H2, GTF2H2C +12 more	Deletion	Primary amenorrhea	GBenign
Select item 549598	NM_006251.6(PRKAA1):c.128-8015_128-1544del	LOC111556114, PRKAA1	Deletion (intron variant +3 more)	Primary amenorrhea	GUncertain significance
Select item 549597	NC_000005.10:g.160592205_161364688dup	ATP10B, GABRB2 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549596	NC_000005.9:g.152263564_152321761del58198	LINC01470	Deletion	Primary amenorrhea	GUncertain significance
Select item 549595	NC_000005.9:g.112179040_112192379del13340	APC	Deletion	Primary amenorrhea	GUncertain significance
Select item 549594	NC_000004.12:g.90236498_90494805dup	CCSER1, LOC121725178	Duplication	Primary amenorrhea	GLikely benign
Select item 549593	NC_000004.11:g.31744797_31975862del231066		Deletion	Primary amenorrhea	GLikely benign
Select item 549592	NC_000003.11:g.94689602_94823543del133942	LINC00879	Deletion	Primary amenorrhea	GLikely benign
Select item 549591	Single allele	NPCDR1, FHIT	Duplication	Primary amenorrhea	GLikely benign
Select item 549590	NC_000003.12:g.57686154_57804308dup	DENND6A, DENND6A-DT +4 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549589	NC_000003.12:g.30872874_31319912dup	GADL1, LOC126806641 +5 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549588	NC_000003.12:g.189709350_189870688dup	LOC111162621, LOC129938147 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549587	NC_000003.12:g.189709350_189867832dup	LOC111162621, LOC129938147 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549586	NC_000003.12:g.127814446_127916946dup	KBTBD12, LOC126806805 +3 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549585	NC_000002.11:g.61795359_61831792del36434	XPO1	Deletion	Primary amenorrhea	GUncertain significance
Select item 549584	NC_000002.12:g.35742924_35765778dup		Duplication	Primary amenorrhea	GUncertain significance
Select item 549583	NC_000002.12:g.183054447_183247902dup	DUSP19, LOC129935223 +1 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549582	NC_000002.11:g.159142708_159250404del107697	CCDC148	Deletion	Primary amenorrhea	GLikely benign
Select item 549581	Single allele	NBAS, MYCN +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549580	NC_000002.11:g.133725047_134126372del401326	NCKAP5	Deletion	Primary amenorrhea	GLikely benign
Select item 549579	NC_000001.11:g.45650769_45929717dup	GPBP1L1, IPP +10 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549578	NC_000001.11:g.246924924_247245758dup	AHCTF1, FLJ39095 +18 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549577	NC_000001.11:g.246005506_246528998dup	LINC01743, LOC110121251 +15 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549576	NC_000001.11:g.202057882_202124606dup	GPR37L1, LOC111429603 +2 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549575	NC_000001.11:g.194043799_194353490dup	LOC129388707, LOC129388708 +4 more	Duplication	Primary amenorrhea	GLikely benign
Select item 549574	NC_000001.10:g.158323371_158352947del29577	CD1E	Deletion	Primary amenorrhea	GLikely benign
Select item 549573	NC_000001.11:g.112796384_112887499dup	LINC01356, CAPZA1 +12 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 267964	46;XX;add(1)(q32.1)		Translocation	Primary amenorrhea	GUncertain significance
Select item 267801	46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2>2qter;8qter>8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)dn		Translocation	3-4 toe syndactyly +6 more	GUncertain significance

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Items: 91