25886[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 144835	GRCh38/hg38 2q21.1(chr2:130029216-130465575)x3	CCDC115, CCDC74B +23 more	Copy number gain	See cases	GBenign
Select item 144823	GRCh38/hg38 2q21.1(chr2:130029216-130414455)x3	CCDC115, CCDC74B +22 more	Copy number gain	See cases	GBenign
Select item 153715	GRCh38/hg38 2q21.1(chr2:130059752-130427257)x1	CCDC115, CCDC74B +22 more	Copy number loss	See cases	GUncertain significance
Select item 144836	GRCh38/hg38 2q21.1(chr2:130077004-130465575)x3	CCDC115, CCDC74B +23 more	Copy number gain	See cases	GBenign
Select item 2579260	GRCh38/hg38 2q21.1(chr2:130099219-130374931)x1	CCDC115, CCDC74B +19 more	Copy number loss	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 153676	GRCh38/hg38 2q21.1(chr2:130146886-130388116)x1	CCDC115, IMP4 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2229651	NM_025029.5(MZT2B):c.8C>T (p.Ala3Val)	LOC129934765, MZT2B (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258629	NM_025029.5(MZT2B):c.14G>A (p.Gly5Asp)	LOC129934765, MZT2B (G5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607176	NM_025029.5(MZT2B):c.43C>T (p.Pro15Ser)	LOC129934765, MZT2B (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170453	NM_025029.5(MZT2B):c.72G>T (p.Lys24Asn)	LOC129934765, MZT2B (K24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617014	NM_025029.5(MZT2B):c.101G>A (p.Ser34Asn)	LOC129934765, MZT2B (S34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298213	NM_025029.5(MZT2B):c.169A>C (p.Lys57Gln)	LOC129934765, MZT2B (K57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170427	NM_025029.5(MZT2B):c.199G>A (p.Val67Met)	MZT2B (V67M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305269	NM_025029.5(MZT2B):c.219C>G (p.Phe73Leu)	MZT2B (F73L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298212	NM_025029.5(MZT2B):c.241G>A (p.Ala81Thr)	MZT2B (A81T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525824	NM_025029.5(MZT2B):c.278C>T (p.Ala93Val)	MZT2B (A93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298214	NM_025029.5(MZT2B):c.292C>T (p.Pro98Ser)	MZT2B (P98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253722	NM_025029.5(MZT2B):c.308C>T (p.Pro103Leu)	MZT2B (P103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651363	NM_025029.5(MZT2B):c.319+1061C>G	MZT2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651364	NM_025029.5(MZT2B):c.319+1145C>G	MZT2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3298210	NM_025029.5(MZT2B):c.325A>G (p.Asn109Asp)	MZT2B (K59R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298215	NM_025029.5(MZT2B):c.337G>A (p.Ala113Thr)	MZT2B (A113T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170436	NM_025029.5(MZT2B):c.355T>A (p.Leu119Met)	MZT2B (L119M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170440	NM_025029.5(MZT2B):c.382G>A (p.Glu128Lys)	MZT2B (R78Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298211	NM_025029.5(MZT2B):c.406C>T (p.Arg136Cys)	MZT2B (R196C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170447	NM_025029.5(MZT2B):c.460A>G (p.Thr154Ala)	MZT2B (Y104C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364418	NM_207312.3(TUBA3E):c.1342G>A (p.Glu448Lys)	MZT2B, TUBA3E (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306741	NM_207312.3(TUBA3E):c.1292A>G (p.Asp431Gly)	MZT2B, TUBA3E (D431G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061818	NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu)	MZT2B, TUBA3E (A426E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 767820	NM_207312.3(TUBA3E):c.1266C>T (p.Arg422=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2651365	NM_207312.3(TUBA3E):c.1246G>A (p.Gly416Arg)	MZT2B, TUBA3E (G416R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2228886	NM_207312.3(TUBA3E):c.1217A>G (p.His406Arg)	MZT2B, TUBA3E (H406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383475	NM_207312.3(TUBA3E):c.1175T>A (p.Val392Asp)	MZT2B, TUBA3E (V392D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2651366	NM_207312.3(TUBA3E):c.1155G>A (p.Ala385=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264699	NM_207312.3(TUBA3E):c.1145C>T (p.Thr382Met)	MZT2B, TUBA3E (T382M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690398	NM_207312.3(TUBA3E):c.1056+1G>A	MZT2B, TUBA3E	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2227877	NM_207312.3(TUBA3E):c.1043C>T (p.Pro348Leu)	MZT2B, TUBA3E (P348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767821	NM_207312.3(TUBA3E):c.927T>C (p.His309=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184728	NM_207312.3(TUBA3E):c.884G>C (p.Cys295Ser)	MZT2B, TUBA3E (C295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207083	NM_207312.3(TUBA3E):c.803C>G (p.Pro268Arg)	MZT2B, TUBA3E (P268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549551	NM_207312.3(TUBA3E):c.796C>A (p.His266Asn)	MZT2B, TUBA3E (H266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237932	NM_207312.3(TUBA3E):c.788C>A (p.Pro263His)	MZT2B, TUBA3E (P263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393616	NM_207312.3(TUBA3E):c.778G>A (p.Val260Met)	MZT2B, TUBA3E (V260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284503	NM_207312.3(TUBA3E):c.686G>A (p.Arg229His)	MZT2B, TUBA3E (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231444	NM_207312.3(TUBA3E):c.685C>T (p.Arg229Cys)	MZT2B, TUBA3E (R229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184727	NM_207312.3(TUBA3E):c.673A>G (p.Thr225Ala)	MZT2B, TUBA3E (T225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550691	NM_207312.3(TUBA3E):c.671A>C (p.Tyr224Ser)	MZT2B, TUBA3E (Y224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651367	NM_207312.3(TUBA3E):c.669G>A (p.Thr223=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767822	NM_207312.3(TUBA3E):c.661C>A (p.Arg221Ser)	MZT2B, TUBA3E (R221S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3184726	NM_207312.3(TUBA3E):c.647A>G (p.Asn216Ser)	MZT2B, TUBA3E (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183299	NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys)	TUBA3E, MZT2B (R215C)	Single nucleotide variant (missense variant)	Lissencephaly +3 more	GLikely pathogenic
Select item 2312253	NM_207312.3(TUBA3E):c.641G>A (p.Arg214Gln)	MZT2B, TUBA3E (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067303	NM_207312.3(TUBA3E):c.640C>T (p.Arg214Trp)	MZT2B, TUBA3E (R214W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2393670	NM_207312.3(TUBA3E):c.617A>G (p.Asn206Ser)	MZT2B, TUBA3E (N206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249668	NM_207312.3(TUBA3E):c.466C>T (p.Arg156Trp)	MZT2B, TUBA3E (R156W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2350904	NM_207312.3(TUBA3E):c.454C>A (p.Leu152Met)	MZT2B, TUBA3E (L152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326078	NM_207312.3(TUBA3E):c.377C>T (p.Ala126Val)	MZT2B, TUBA3E (A126V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1326080	NM_207312.3(TUBA3E):c.376-14C>G	MZT2B, TUBA3E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2406255	NM_207312.3(TUBA3E):c.368G>T (p.Arg123Leu)	MZT2B, TUBA3E (R123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252328	NM_207312.3(TUBA3E):c.368G>C (p.Arg123Pro)	MZT2B, TUBA3E (R123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767823	NM_207312.3(TUBA3E):c.309C>T (p.Tyr103=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767824	NM_207312.3(TUBA3E):c.302G>A (p.Ser101Asn)	MZT2B, TUBA3E (S101N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 506876	NM_207312.3(TUBA3E):c.225C>T (p.Val75=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2216761	NM_207312.3(TUBA3E):c.214C>T (p.Pro72Ser)	MZT2B, TUBA3E (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383064	NM_207312.3(TUBA3E):c.184G>A (p.Val62Met)	MZT2B, TUBA3E (V62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358053	NM_207312.3(TUBA3E):c.152C>T (p.Thr51Met)	MZT2B, TUBA3E (T51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255472	NM_207312.3(TUBA3E):c.83A>G (p.His28Arg)	MZT2B, TUBA3E (H28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3024615	GRCh37/hg19 2q21.1(chr2:130817091-131143296)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 689342	GRCh37/hg19 2q21.1(chr2:130825667-131215515)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 688660	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 688128	GRCh37/hg19 2q21.1(chr2:130795738-131157859)x1	CCDC115, CCDC74B +6 more	Copy number loss	not provided	GUncertain significance
Select item 686988	GRCh37/hg19 2q21.1(chr2:130817325-131238042)x3	CCDC115, CCDC74B +7 more	Copy number gain	not provided	GUncertain significance
Select item 686688	GRCh37/hg19 2q21.1(chr2:130868379-131157859)x3	IMP4, MZT2B +6 more	Copy number gain	not provided	GUncertain significance
Select item 686507	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 686134	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685386	GRCh37/hg19 2q21.1(chr2:130916858-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685028	GRCh37/hg19 2q21.1(chr2:130906186-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 684998	GRCh37/hg19 2q21.1(chr2:130817346-131157859)x1	CCDC115, CCDC74B +6 more	Copy number loss	not provided	GUncertain significance
Select item 684907	GRCh37/hg19 2q21.1(chr2:130904459-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562617	GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1	TUBA3E, PTPN18 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
Select item 443087	GRCh37/hg19 2q14.3-21.1(chr2:129784722-131050352)x1	CCDC74B, MZT2B +4 more	Copy number loss	See cases	GUncertain significance
Select item 443063	GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3	CCDC115, CCDC74B +11 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442675	GRCh37/hg19 2q21.1(chr2:130904460-131145689)x1	CCDC115, IMP4 +4 more	Copy number loss	See cases	GUncertain significance
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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