55249[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 145877	GRCh38/hg38 1q22(chr1:155648847-155715659)x3	DAP3, LOC129931572 +2 more	Copy number gain	See cases	GLikely benign
Select item 726019	NM_139119.3(YY1AP1):c.2250T>C (p.Leu750=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3191696	NM_139119.3(YY1AP1):c.2179T>C (p.Ser727Pro)	YY1AP1 (S707P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2397147	NM_139119.3(YY1AP1):c.2179T>A (p.Ser727Thr)	YY1AP1 (S661T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532269	NM_139119.3(YY1AP1):c.2101A>G (p.Thr701Ala)	YY1AP1 (T635A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560272	NM_139119.3(YY1AP1):c.2095C>A (p.Arg699Ser)	YY1AP1 (R688S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288250	NM_139119.3(YY1AP1):c.2095C>T (p.Arg699Cys)	YY1AP1 (R679C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466724	NM_139119.3(YY1AP1):c.2087G>A (p.Ser696Asn)	YY1AP1 (S696N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3054037	NM_139119.3(YY1AP1):c.2073A>G (p.Gly691=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	YY1AP1-related disorder	GLikely benign
Select item 2512201	NM_139119.3(YY1AP1):c.2053G>A (p.Asp685Asn)	YY1AP1 (D731N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 375640	NM_139119.3(YY1AP1):c.1987G>T (p.Glu663Ter)	YY1AP1 (E801* +6 more)	Single nucleotide variant (nonsense +1 more)	Grange syndrome	GPathogenic
Select item 375639	NM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter)	YY1AP1 (L797* +6 more)	Single nucleotide variant (nonsense +1 more)	Grange syndrome	GPathogenic
Select item 2549328	NM_139119.3(YY1AP1):c.1949A>G (p.Asn650Ser)	YY1AP1 (N639S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306073	NM_139119.3(YY1AP1):c.1939G>A (p.Asp647Asn)	YY1AP1 (D627N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2405141	NM_139119.3(YY1AP1):c.1909A>G (p.Met637Val)	YY1AP1 (M617V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3371308	NM_139119.3(YY1AP1):c.1877del (p.Pro626fs)	YY1AP1 (P560fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2474426	NM_139119.3(YY1AP1):c.1823T>C (p.Leu608Pro)	YY1AP1 (L542P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 709137	NM_139119.3(YY1AP1):c.1773C>T (p.Ala591=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2605040	NM_139119.3(YY1AP1):c.1762A>G (p.Ile588Val)	YY1AP1 (I568V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672360	NM_139119.3(YY1AP1):c.1755C>T (p.Pro585=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719456	NM_139119.3(YY1AP1):c.1737G>A (p.Ala579=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3191693	NM_139119.3(YY1AP1):c.1733A>G (p.Asn578Ser)	YY1AP1 (N567S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 780262	NM_139119.3(YY1AP1):c.1719G>A (p.Met573Ile)	YY1AP1 (M711I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3191692	NM_139119.3(YY1AP1):c.1708G>A (p.Gly570Ser)	YY1AP1 (G550S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545564	NM_139119.3(YY1AP1):c.1643T>C (p.Ile548Thr)	YY1AP1 (I482T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191691	NM_139119.3(YY1AP1):c.1582C>T (p.Arg528Trp)	YY1AP1 (R462W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191690	NM_139119.3(YY1AP1):c.1528A>G (p.Lys510Glu)	YY1AP1 (K556E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 375641	NM_139119.3(YY1AP1):c.1489_1492del (p.Glu498fs)	YY1AP1 (E616fs +6 more)	Microsatellite (frameshift variant +1 more)	Grange syndrome	GPathogenic
Select item 3065876	NM_139119.3(YY1AP1):c.1483_1484dup (p.Ser497fs)	YY1AP1 (S431fs +6 more)	Duplication (frameshift variant +1 more)	Grange syndrome	GUncertain significance
Select item 2441863	NM_139119.3(YY1AP1):c.1484C>T (p.Pro495Leu)	YY1AP1 (P429L +6 more)	Single nucleotide variant (missense variant +1 more)	Grange syndrome	GUncertain significance
Select item 725700	NM_139119.3(YY1AP1):c.1461C>T (p.Pro487=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2250855	NM_139119.3(YY1AP1):c.1460C>G (p.Pro487Arg)	YY1AP1 (P421R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 781665	NM_139119.3(YY1AP1):c.1456A>G (p.Met486Val)	YY1AP1 (M475V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3353207	NM_139119.3(YY1AP1):c.1453G>A (p.Ala485Thr)	YY1AP1 (A419T +6 more)	Single nucleotide variant (missense variant +1 more)	YY1AP1-related disorder	GLikely benign
Select item 2283630	NM_139119.3(YY1AP1):c.1426A>C (p.Ser476Arg)	YY1AP1 (S522R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191689	NM_139119.3(YY1AP1):c.1417G>A (p.Gly473Arg)	YY1AP1 (G407R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782389	NM_139119.3(YY1AP1):c.1405C>G (p.Leu469Val)	YY1AP1 (L403V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3191688	NM_139119.3(YY1AP1):c.1349T>C (p.Ile450Thr)	YY1AP1 (I384T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191686	NM_139119.3(YY1AP1):c.1339G>A (p.Val447Met)	YY1AP1 (V381M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780263	NM_139119.3(YY1AP1):c.1304A>G (p.Gln435Arg)	YY1AP1 (Q369R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2499233	NM_139119.3(YY1AP1):c.1303del (p.Gln435fs)	YY1AP1 (Q369fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 742114	NM_139119.3(YY1AP1):c.1269C>T (p.Leu423=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3333759	NM_139119.3(YY1AP1):c.1217A>G (p.Gln406Arg)	YY1AP1 (Q386R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710876	NM_139119.3(YY1AP1):c.1202A>G (p.Lys401Arg)	YY1AP1 (K381R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1031921	NM_139119.3(YY1AP1):c.1192C>T (p.Arg398Cys)	YY1AP1 (R387C +6 more)	Single nucleotide variant (missense variant +1 more)	Grange syndrome	GUncertain significance
Select item 789694	NM_139119.3(YY1AP1):c.1158G>A (p.Lys386=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773817	NM_139119.3(YY1AP1):c.1149A>G (p.Leu383=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2331195	NM_139119.3(YY1AP1):c.1136G>A (p.Arg379Gln)	YY1AP1 (R517Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191684	NM_139119.3(YY1AP1):c.1135C>T (p.Arg379Trp)	YY1AP1 (R497W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612083	NM_139119.3(YY1AP1):c.1061A>G (p.Asn354Ser)	YY1AP1 (N288S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191683	NM_139119.3(YY1AP1):c.1028G>A (p.Arg343Gln)	YY1AP1 (R323Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2248527	NM_139119.3(YY1AP1):c.986T>C (p.Phe329Ser)	YY1AP1 (F375S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333758	NM_139119.3(YY1AP1):c.977G>A (p.Arg326Gln)	YY1AP1 (R372Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224792	NM_139119.3(YY1AP1):c.976C>T (p.Arg326Trp)	YY1AP1 (R392W +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720259	NM_139119.3(YY1AP1):c.975C>T (p.His325=)	YY1AP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254939	NM_139119.3(YY1AP1):c.923G>C (p.Cys308Ser)	YY1AP1 (C242S +7 more)	Single nucleotide variant (missense variant)	Grange syndrome	GUncertain significance
Select item 2533432	NM_139119.3(YY1AP1):c.893C>A (p.Thr298Asn)	YY1AP1 (T232N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233497	NM_139119.3(YY1AP1):c.872T>C (p.Ile291Thr)	YY1AP1 (I225T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605633	NM_139119.3(YY1AP1):c.822A>C (p.Gln274His)	YY1AP1 (Q263H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191682	NM_139119.3(YY1AP1):c.818G>A (p.Arg273His)	YY1AP1 (R207H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2546460	NM_139119.3(YY1AP1):c.773T>G (p.Leu258Arg)	YY1AP1 (L247R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1098711	NM_139119.3(YY1AP1):c.743del (p.Gly248fs)	YY1AP1 (G182fs +4 more)	Deletion (frameshift variant +1 more)	Grange syndrome	GLikely pathogenic
Select item 2596234	NM_139119.3(YY1AP1):c.729T>G (p.Asn243Lys)	YY1AP1 (N309K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 744613	NM_139119.3(YY1AP1):c.702G>A (p.Lys234=)	YY1AP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333762	NM_139119.3(YY1AP1):c.667G>T (p.Val223Leu)	YY1AP1 (V223L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493560	NM_139119.3(YY1AP1):c.596C>A (p.Pro199His)	YY1AP1 (P188H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523661	NM_139119.3(YY1AP1):c.583+23T>G	YY1AP1	Single nucleotide variant (intron variant)	Grange syndrome	GPathogenic
Select item 2300984	NM_139119.3(YY1AP1):c.575A>G (p.Lys192Arg)	YY1AP1 (K126R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1309755	NM_139119.3(YY1AP1):c.567A>T (p.Lys189Asn)	YY1AP1 (K123N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3191699	NM_139119.3(YY1AP1):c.457C>G (p.Gln153Glu)	YY1AP1 (Q219E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621402	NM_139119.3(YY1AP1):c.442A>G (p.Ile148Val)	YY1AP1 (I214V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615438	NM_139119.3(YY1AP1):c.433C>G (p.Gln145Glu)	YY1AP1 (Q283E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523660	NM_139119.3(YY1AP1):c.412-1G>A	YY1AP1	Single nucleotide variant (splice acceptor variant)	Grange syndrome	GPathogenic
Select item 3235846	NM_139119.3(YY1AP1):c.405A>G (p.Ile135Met)	YY1AP1 (I124M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312653	NM_139119.3(YY1AP1):c.403A>G (p.Ile135Val)	YY1AP1 (I124V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752448	NM_139119.3(YY1AP1):c.384G>A (p.Pro128=)	YY1AP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333761	NM_139119.3(YY1AP1):c.374A>G (p.Asn125Ser)	YY1AP1 (N114S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 719314	NM_139119.3(YY1AP1):c.324+7C>T	YY1AP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3191698	NM_139119.3(YY1AP1):c.310C>G (p.Gln104Glu)	YY1AP1 (Q242E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375638	NM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter)	YY1AP1 (Q242* +4 more)	Single nucleotide variant (nonsense)	Grange syndrome	GPathogenic
Select item 2340833	NM_139119.3(YY1AP1):c.260A>C (p.Glu87Ala)	YY1AP1 (E153A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375642	NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter)	YY1AP1 (Q222* +4 more)	Single nucleotide variant (nonsense)	YY1AP1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2370489	NM_139119.3(YY1AP1):c.225G>C (p.Gln75His)	YY1AP1 (Q141H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679351	NM_139119.3(YY1AP1):c.207del (p.Lys69fs)	YY1AP1 (K135fs +4 more)	Deletion (frameshift variant)	Grange syndrome	GLikely pathogenic
Select item 2508871	NM_139119.3(YY1AP1):c.173C>T (p.Ala58Val)	YY1AP1 (A124V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3191697	NM_139119.3(YY1AP1):c.58G>C (p.Asp20His)	YY1AP1 (D158H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536126	NM_139119.3(YY1AP1):c.47A>G (p.Asn16Ser)	YY1AP1 (N154S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329606	NM_139119.3(YY1AP1):c.38G>T (p.Gly13Val)	YY1AP1 (G151V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065474	NM_139119.3(YY1AP1):c.-21+1G>T	DAP3, YY1AP1	Single nucleotide variant (splice donor variant +1 more)	Grange syndrome	GLikely pathogenic
Select item 1723831	NM_139119.3(YY1AP1):c.-27C>T	DAP3, YY1AP1 (R130* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 720659	NM_139119.3(YY1AP1):c.-30C>T	DAP3, YY1AP1 (L57F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 775608	NM_139119.3(YY1AP1):c.-49T>C	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3333760	NM_139119.3(YY1AP1):c.-59C>T	DAP3, YY1AP1 (S119L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 782734	NM_139119.3(YY1AP1):c.-60T>C	DAP3, YY1AP1 (S119P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 2372280	NM_139119.3(YY1AP1):c.-90C>T	DAP3, YY1AP1 (R109W +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 773115	NM_139119.3(YY1AP1):c.-95G>A	DAP3, YY1AP1 (G107E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2341000	NM_139119.3(YY1AP1):c.-141C>T	DAP3, YY1AP1 (R20C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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