ClinVar for Gene (Select 10907) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063551	GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1	ADNP2, ATP9B +19 more	Copy number loss	not specified	GPathogenic
Select item 3063550	GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1	ADNP2, ATP9B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063547	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not specified	GPathogenic
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3044113	NM_006701.5(TXNL4A):c.84C>T (p.Ile28=)	TXNL4A	Single nucleotide variant (5 prime UTR variant +3 more)	TXNL4A-related condition	GLikely benign
Select item 3040549	NM_006701.5(TXNL4A):c.168A>G (p.Ala56=)	TXNL4A	Single nucleotide variant (synonymous variant +2 more)	TXNL4A-related condition	GLikely benign
Select item 2685626	GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2630212	NM_006701.5(TXNL4A):c.1A>C (p.Met1Leu)	LOC130062794, TXNL4A (M1L)	Single nucleotide variant (intron variant +4 more)	TXNL4A-related condition	GUncertain significance
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ADNP2, ATP9B +37 more	Copy number loss	not provided	GPathogenic
Select item 2574698	GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)	ADNP2, ATP9B +34 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2571020	GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2500799	GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	CYB5A, PARD6G +33 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2474178	NM_006701.5(TXNL4A):c.260A>G (p.Asn87Ser)	TXNL4A (N87S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425209	NC_000018.9:g.(?_76773973)_(77748392_?)dup	ATP9B, CTDP1 +5 more	Duplication	not provided	GUncertain significance
Select item 2425203	NC_000018.9:g.(?_76773973)_(77748392_?)del	ATP9B, CTDP1 +5 more	Deletion	not provided	GUncertain significance
Select item 2269978	NM_006701.5(TXNL4A):c.5C>T (p.Ser2Leu)	LOC130062794, TXNL4A (S2L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1808061	GRCh37/hg19 18q23(chr18:77685396-78014123)x1	ADNP2, HSBP1L1 +4 more	Copy number loss	not provided	GPathogenic
Select item 1807794	GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	not provided	GPathogenic
Select item 1807707	GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1	ADNP2, ATP9B +41 more	Copy number loss	not provided	GPathogenic
Select item 1807600	GRCh37/hg19 18q23(chr18:76926426-78014123)x1	KCNG2, ADNP2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1712252	GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1	HSBP1L1, ADNP2 +18 more	Copy number loss	See cases	GPathogenic
Select item 1703624	GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	ADNP2, ATP9B +45 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1703234	Single allele	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1699952	NM_006701.5(TXNL4A):c.258-3C>G	TXNL4A	Single nucleotide variant (intron variant)	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 1699951	NM_006701.5(TXNL4A):c.93_94del (p.His32fs)	TXNL4A (H32fs)	Deletion (5 prime UTR variant +3 more)	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 1684631	Single allele	LINC01922, LINC01927 +279 more	Deletion	Nystagmus +10 more	GPathogenic
Select item 1679370	NM_006701.5(TXNL4A):c.288dup (p.Gly97fs)	TXNL4A (G26fs +3 more)	Duplication (frameshift variant +1 more)	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GLikely pathogenic
Select item 1526653	GRCh37/hg19 18q23(chr18:77590179-77803500)	HSBP1L1, KCNG2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526649	GRCh37/hg19 18q23(chr18:77351707-78014123)	ADNP2, RBFA +6 more	Copy number loss	not specified	GUncertain significance
Select item 1526648	GRCh37/hg19 18q23(chr18:77274107-77923180)	ADNP2, CTDP1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526647	GRCh37/hg19 18q23(chr18:76304293-77982228)	KCNG2, NFATC1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526646	GRCh37/hg19 18q23(chr18:75797336-78014123)	SALL3, ADNP2 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1526643	GRCh37/hg19 18q22.3-23(chr18:70333866-78014123)	LINC01879, MBP +27 more	Copy number loss	not specified	GPathogenic
Select item 1526630	GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	FBXO15, SLC66A2 +57 more	Copy number loss	not specified	GPathogenic
Select item 1526628	GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	PHLPP1, PIGN +58 more	Copy number loss	not specified	GPathogenic
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1341170	GRCh37/hg19 18q23(chr18:77546536-77789266)x1	HSBP1L1, KCNG2 +2 more	Copy number loss	not provided	GLikely benign
Select item 1298010	NM_001305563.2(TXNL4A):c.-60-11000C>G	LOC130062795, TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288525	NM_006701.5(TXNL4A):c.153+1790dup	TXNL4A	Duplication (intron variant)	not provided	GBenign
Select item 1270135	NM_006701.5(TXNL4A):c.-133T>G	LOC130062794, TXNL4A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1259977	NM_006701.5(TXNL4A):c.153+1837A>T	TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258632	NM_006701.5(TXNL4A):c.154-114_154-110del	TXNL4A	Microsatellite (intron variant)	not provided	GBenign
Select item 1244544	NM_001305563.2(TXNL4A):c.-60-10958C>T	LOC130062795, TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237111	NM_006701.5(TXNL4A):c.257+201G>A	TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231179	NM_001305563.2(TXNL4A):c.-60-10923A>G	TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182794	NM_006701.5(TXNL4A):c.258-120T>C	TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182672	NM_006701.5(TXNL4A):c.153+1349A>G	TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1177803	NM_006701.5(TXNL4A):c.153+1617A>G	TXNL4A	Single nucleotide variant (synonymous variant +2 more)	TXNL4A-related condition +1 more	GBenign
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	LINC-ROR, LINC00683 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	LINC01415, LINC01879 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1030130	NM_006701.5(TXNL4A):c.74T>A (p.Val25Glu)	TXNL4A (V25E)	Single nucleotide variant (5 prime UTR variant +3 more)	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GUncertain significance
Select item 980190	GRCh37/hg19 18q23(chr18:77455823-77891586)x3	TXNL4A, SLC66A2 +5 more	Copy number gain	not provided	GLikely benign
Select item 980187	GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1	PARD6G, PTGR3 +26 more	Copy number loss	not provided	GPathogenic
Select item 980184	GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3	PTGR3, SOCS6 +36 more	Copy number gain	not provided	GLikely pathogenic
Select item 816493	GRCh37/hg19 18q23(chr18:73158604-78015180)x1	PARD6G, ADNP2 +15 more	Copy number loss	See cases	GPathogenic
Select item 816058	GRCh37/hg19 18q23(chr18:75494800-78014123)x3	HSBP1L1, KCNG2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 816057	GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1	FBXO15, LINC01879 +27 more	Copy number loss	not provided	GPathogenic
Select item 816056	GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1	HSBP1L1, TXNL4A +27 more	Copy number loss	not provided	GPathogenic
Select item 816055	GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1	PTGR3, DIPK1C +31 more	Copy number loss	not provided	GPathogenic
Select item 816054	GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1	MBP, NETO1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816053	GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	TXNL4A, CYB5A +53 more	Copy number loss	not provided	GPathogenic
Select item 816052	GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	ZNF236, CYB5A +66 more	Copy number loss	not provided	GPathogenic
Select item 816051	GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	PHLPP1, MC4R +72 more	Copy number loss	not provided	GPathogenic
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 816049	GRCh37/hg19 18q23(chr18:77435786-77898410)x3	RBFA, TXNL4A +5 more	Copy number gain	not provided	GLikely benign
Select item 722554	NM_006701.5(TXNL4A):c.423C>T (p.Arg141=)	TXNL4A	Single nucleotide variant (synonymous variant +1 more)	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 687366	GRCh37/hg19 18q23(chr18:77656498-77786704)x3	HSBP1L1, KCNG2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686550	GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not provided	GPathogenic
Select item 686547	GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not provided	GPathogenic
Select item 635891	Single allele	ADNP2, ATP9B +37 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626290	Single allele	ADNP2, ATP9B +59 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 625804	GRCh37/hg19 18q23(chr18:75146662-78014582)	ADNP2, ATP9B +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 624476	GRCh37/hg19 18q23(chr18:74285842-78010032)x1	RBFA, SALL3 +14 more	Copy number loss	not provided	GUncertain significance
Select item 592068	NM_006701.5(TXNL4A):c.23T>G (p.Leu8Arg)	TXNL4A (L8R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564570	GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	PMAIP1, GALR1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564569	GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	DIPK1C, SLC66A2 +64 more	Copy number loss	not provided	GPathogenic
Select item 564566	GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	ZNF236, TIMM21 +52 more	Copy number loss	not provided	GPathogenic
Select item 564561	GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1	ADNP2, ATP9B +35 more	Copy number loss	not provided	GPathogenic
Select item 564560	GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1	ADNP2, ATP9B +35 more	Copy number loss	not provided	GPathogenic
Select item 564558	GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1	ZNF516, FBXO15 +32 more	Copy number loss	not provided	GPathogenic
Select item 564556	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ATP9B, CBLN2 +28 more	Copy number loss	not provided	GPathogenic
Select item 564553	GRCh37/hg19 18q23(chr18:73214538-78014123)x1	GALR1, ADNP2 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 564550	GRCh37/hg19 18q23(chr18:74472294-78014123)x3	HSBP1L1, SLC66A2 +12 more	Copy number gain	not provided	GPathogenic
Select item 564545	GRCh37/hg19 18q23(chr18:75135713-78014123)x3	NFATC1, SALL3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564519	GRCh37/hg19 18q23(chr18:77100937-77783404)x3	NFATC1, SLC66A2 +5 more	Copy number gain	not provided	GLikely benign
Select item 564515	GRCh37/hg19 18q23(chr18:77274107-77799676)x3	SLC66A2, NFATC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 559585	Single allele	SLC66A2, SALL3 +35 more	Deletion	Intestinal malrotation	GPathogenic
Select item 451615	NM_006701.5(TXNL4A):c.88_110del (p.Phe30fs)	TXNL4A (F30fs)	Deletion (5 prime UTR variant +3 more)	not provided +1 more	GLikely pathogenic
Select item 446345	GRCh37/hg19 18q23(chr18:76399247-78015180)x1	ADNP2, ATP9B +9 more	Copy number loss	See cases	GPathogenic

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