ClinVar for Gene (Select 80148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320093	NM_025078.5(SLC66A2):c.10G>A (p.Glu4Lys)	SLC66A2 (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320092	NM_025078.5(SLC66A2):c.88G>T (p.Val30Leu)	SLC66A2 (V30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320091	NM_025078.5(SLC66A2):c.420G>C (p.Trp140Cys)	SLC66A2 (W122C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320090	NM_025078.5(SLC66A2):c.642C>T (p.Asp214=)	SLC66A2 (T124M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3165334	NM_025078.5(SLC66A2):c.787G>A (p.Val263Met)	SLC66A2 (V245M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165333	NM_025078.5(SLC66A2):c.784G>A (p.Ala262Thr)	SLC66A2 (A262T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165332	NM_025078.5(SLC66A2):c.712G>T (p.Val238Leu)	SLC66A2 (V238L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165331	NM_025078.5(SLC66A2):c.694G>A (p.Val232Met)	SLC66A2 (V214M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165330	NM_025078.5(SLC66A2):c.67G>T (p.Ala23Ser)	SLC66A2 (A23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165329	NM_025078.5(SLC66A2):c.600G>T (p.Glu200Asp)	SLC66A2 (E182D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165328	NM_025078.5(SLC66A2):c.574C>T (p.Arg192Cys)	SLC66A2 (R192C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165327	NM_025078.5(SLC66A2):c.571T>C (p.Tyr191His)	SLC66A2 (Y191H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165326	NM_025078.5(SLC66A2):c.466G>A (p.Val156Met)	SLC66A2 (V138M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165325	NM_025078.5(SLC66A2):c.416A>G (p.Gln139Arg)	SLC66A2 (Q139R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165324	NM_025078.5(SLC66A2):c.397G>A (p.Asp133Asn)	SLC66A2 (D133N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165323	NM_025078.5(SLC66A2):c.322C>T (p.Arg108Cys)	SLC66A2 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165322	NM_025078.5(SLC66A2):c.26T>A (p.Leu9His)	SLC66A2 (L9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165321	NM_025078.5(SLC66A2):c.214C>T (p.Arg72Cys)	SLC66A2 (R72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165319	NM_025078.5(SLC66A2):c.141C>A (p.Asp47Glu)	SLC66A2 (D47E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165318	NM_025078.5(SLC66A2):c.116A>G (p.Asp39Gly)	SLC66A2 (D39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148889	GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3	ADNP2, ATP9B +34 more	Copy number gain	not provided	GPathogenic
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 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 2619137	NM_025078.5(SLC66A2):c.32T>C (p.Val11Ala)	SLC66A2 (V11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609109	NM_025078.5(SLC66A2):c.493A>G (p.Ile165Val)	SLC66A2 (I147V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	SMIM21, TXNL4A +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 2552112	NM_025078.5(SLC66A2):c.550A>G (p.Met184Val)	SLC66A2 (M166V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546836	NM_025078.5(SLC66A2):c.773C>T (p.Pro258Leu)	SLC66A2 (P240L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530297	NM_025078.5(SLC66A2):c.409T>G (p.Phe137Val)	SLC66A2 (F119V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2490894	NM_025078.5(SLC66A2):c.379C>T (p.Arg127Trp)	SLC66A2 (R127W)	Single nucleotide variant (missense variant +1 more)	not specified	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 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	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1684631	Single allele	LINC01893, LOC126862798 +279 more	Deletion	Pulmonary valve stenosis +10 more	GPathogenic
Select item 1526653	GRCh37/hg19 18q23(chr18:77590179-77803500)	HSBP1L1, KCNG2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526650	GRCh37/hg19 18q23(chr18:77403088-77675963)	CTDP1, KCNG2 +1 more	Copy number loss	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 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
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)	PARD6G, PHLPP1 +85 more	Copy number gain	Global developmental delay	GPathogenic
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 786959	NM_025078.5(SLC66A2):c.543C>T (p.Thr181=)	SLC66A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 624525	GRCh37/hg19 18q23(chr18:77565149-77702630)x3	KCNG2, SLC66A2	Copy number gain	not provided	GLikely benign
Select item 624476	GRCh37/hg19 18q23(chr18:74285842-78010032)x1	RBFA, SALL3 +14 more	Copy number loss	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

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