ClinVar for Gene (Select 55748) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268092	NM_018235.3(CNDP2):c.1013G>A (p.Gly338Asp)	CNDP2 (G254D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268091	NM_018235.3(CNDP2):c.668G>C (p.Ser223Thr)	CNDP2 (S223T +1 more)	Single nucleotide variant (missense variant +1 more)	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 3146427	NM_018235.3(CNDP2):c.965C>G (p.Ala322Gly)	CNDP2 (A238G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146426	NM_018235.3(CNDP2):c.964G>A (p.Ala322Thr)	CNDP2 (A83T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146425	NM_018235.3(CNDP2):c.950A>G (p.His317Arg)	CNDP2 (H317R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146424	NM_018235.3(CNDP2):c.91G>A (p.Val31Met)	CNDP2 (V31M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146423	NM_018235.3(CNDP2):c.848A>G (p.Asp283Gly)	CNDP2 (D283G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146421	NM_018235.3(CNDP2):c.700G>A (p.Gly234Ser)	CNDP2 (G150S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146420	NM_018235.3(CNDP2):c.625G>A (p.Gly209Ser)	CNDP2 (G125S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146419	NM_018235.3(CNDP2):c.463C>T (p.Pro155Ser)	CNDP2 (P155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146418	NM_018235.3(CNDP2):c.430C>A (p.Leu144Met)	CNDP2 (L144M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146417	NM_018235.3(CNDP2):c.343C>G (p.Pro115Ala)	CNDP2 (P115A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146416	NM_018235.3(CNDP2):c.335A>G (p.Asp112Gly)	CNDP2 (D112G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146415	NM_018235.3(CNDP2):c.251G>T (p.Arg84Met)	CNDP2 (R84M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146414	NM_018235.3(CNDP2):c.227C>T (p.Pro76Leu)	CNDP2 (P76L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146413	NM_018235.3(CNDP2):c.1258G>A (p.Val420Met)	CNDP2 (V420M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146412	NM_018235.3(CNDP2):c.1135G>A (p.Gly379Ser)	CNDP2 (G295S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146411	NM_018235.3(CNDP2):c.1130A>G (p.Tyr377Cys)	CNDP2 (Y138C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146410	NM_018235.3(CNDP2):c.1105C>T (p.Arg369Cys)	CNDP2 (R130C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2617154	NM_018235.3(CNDP2):c.460A>T (p.Ile154Phe)	CNDP2 (I154F +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	ZNF236, ADNP2 +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 2568800	NM_018235.3(CNDP2):c.1060G>A (p.Gly354Ser)	CNDP2 (G270S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535104	NM_018235.3(CNDP2):c.781G>A (p.Gly261Ser)	CNDP2 (G22S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519986	NM_018235.3(CNDP2):c.761G>T (p.Arg254Met)	CNDP2 (R15M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517262	NM_018235.3(CNDP2):c.610C>G (p.Pro204Ala)	CNDP2 (P204A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513024	NM_018235.3(CNDP2):c.1144G>A (p.Gly382Arg)	CNDP2 (G382R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509838	NM_018235.3(CNDP2):c.569A>G (p.Tyr190Cys)	CNDP2 (Y190C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508835	NM_018235.3(CNDP2):c.1207A>G (p.Thr403Ala)	CNDP2 (T319A +2 more)	Single nucleotide variant (missense variant)	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 2460995	NM_018235.3(CNDP2):c.1033G>A (p.Val345Met)	CNDP2 (V345M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407465	NM_018235.3(CNDP2):c.1063G>A (p.Glu355Lys)	CNDP2 (E271K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381092	NM_018235.3(CNDP2):c.415G>A (p.Gly139Ser)	CNDP2 (G139S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371439	NM_018235.3(CNDP2):c.5C>T (p.Ala2Val)	CNDP2 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366499	NM_018235.3(CNDP2):c.407C>T (p.Pro136Leu)	CNDP2 (P136L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360961	NM_018235.3(CNDP2):c.286A>G (p.Ile96Val)	CNDP2 (I96V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351964	NM_018235.3(CNDP2):c.452G>T (p.Gly151Val)	CNDP2 (G151V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348211	NM_018235.3(CNDP2):c.955A>G (p.Ile319Val)	CNDP2 (I235V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342762	NM_018235.3(CNDP2):c.82A>G (p.Ile28Val)	CNDP2 (I28V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341320	NM_018235.3(CNDP2):c.280G>A (p.Val94Met)	CNDP2 (V94M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315698	NM_018235.3(CNDP2):c.698G>C (p.Gly233Ala)	CNDP2 (G149A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289296	NM_018235.3(CNDP2):c.33A>G (p.Ile11Met)	CNDP2 (I11M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277847	NM_018235.3(CNDP2):c.781G>C (p.Gly261Arg)	CNDP2 (G261R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229551	NM_018235.3(CNDP2):c.98C>T (p.Ala33Val)	CNDP2 (A33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212740	NM_018235.3(CNDP2):c.1106G>A (p.Arg369His)	CNDP2 (R130H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809327	GRCh37/hg19 18q22.3(chr18:72099509-72677275)x3	CNDP1, CNDP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809192	GRCh37/hg19 18q22.3(chr18:68799420-72639955)x3	C18orf63, CBLN2 +8 more	Copy number gain	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 1808471	GRCh37/hg19 18q22.3(chr18:70908956-72391740)x3	C18orf63, CNDP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808118	GRCh37/hg19 18q22.3(chr18:72184691-72410390)x3	CNDP1, CNDP2 +1 more	Copy number gain	not provided	GUncertain significance
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 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 1526643	GRCh37/hg19 18q22.3-23(chr18:70333866-78014123)	LINC01879, MBP +27 more	Copy number loss	not specified	GPathogenic
Select item 1526642	GRCh37/hg19 18q22.3(chr18:70320462-72387913)	CNDP1, CNDP2 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526633	GRCh37/hg19 18q22.1-23(chr18:64340599-77273893)	PTGR3, RTTN +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 1340811	GRCh37/hg19 18q22.3(chr18:71087678-72655732)x3	C18orf63, CNDP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340168	GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1	C18orf63, CBLN2 +17 more	Copy number loss	not provided	GPathogenic
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	LMAN1, MALT1 +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 980187	GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1	PARD6G, PTGR3 +26 more	Copy number loss	not provided	GPathogenic
Select item 980186	GRCh37/hg19 18q22.3(chr18:72099441-72677275)x3	DIPK1C, CNDP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980185	GRCh37/hg19 18q22.3(chr18:72170358-72472157)x3	CNDP1, CNDP2 +1 more	Copy number gain	not provided	GUncertain significance
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 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 816044	GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1	ZNF516, DIPK1C +21 more	Copy number loss	not provided	GPathogenic
Select item 816043	GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1	SMIM21, PTGR3 +16 more	Copy number loss	not provided	GPathogenic
Select item 816039	GRCh37/hg19 18q22.3(chr18:72137137-72453794)x3	CNDP2, ZNF407 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816038	GRCh37/hg19 18q22.3(chr18:72051173-72260569)x3	CNDP1, CNDP2 +1 more	Copy number gain	not provided	GLikely benign
Select item 788917	NM_018235.3(CNDP2):c.104C>T (p.Pro35Leu)	CNDP2 (P35L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781417	NM_018235.3(CNDP2):c.1211-8C>A	CNDP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 779983	NM_018235.3(CNDP2):c.414C>T (p.Ala138=)	CNDP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 774950	NM_018235.3(CNDP2):c.367+9C>T	CNDP2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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