24437[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 58784	GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	ADNP2, ATP9B +348 more	Copy number gain	See cases	GPathogenic
Select item 146574	GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	ADNP2, ATP9B +347 more	Copy number loss	See cases	GPathogenic
Select item 150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	LOC112543433, LOC116276492 +320 more	Copy number loss	See cases	GPathogenic
Select item 60004	GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	ADNP2, ATP9B +308 more	Copy number loss	See cases	GPathogenic
Select item 149742	GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	LOC130062769, LOC130062770 +302 more	Copy number loss	See cases	GPathogenic
Select item 57306	GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1	ADNP2, ATP9B +302 more	Copy number loss	See cases	GPathogenic
Select item 148524	GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	LOC132090901, LOC132211114 +300 more	Copy number loss	See cases	GPathogenic
Select item 147763	GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	LOC126862830, LOC126862831 +299 more	Copy number loss	See cases	GPathogenic
Select item 148742	GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 154000	GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 149650	GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	ADNP2, ATP9B +296 more	Copy number loss	See cases	GPathogenic
Select item 154622	GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	ADNP2, ATP9B +292 more	Copy number gain	See cases	GPathogenic
Select item 147355	GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1	ADNP2, ATP9B +291 more	Copy number loss	See cases	GPathogenic
Select item 152338	GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	ADNP2, ATP9B +288 more	Copy number loss	See cases	GPathogenic
Select item 146891	GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	LOC130062763, LOC130062764 +288 more	Copy number loss	See cases	GPathogenic
Select item 148304	GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	ADNP2, ATP9B +287 more	Copy number loss	See cases	GPathogenic
Select item 148357	GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	ADNP2, ATP9B +282 more	Copy number loss	See cases	GPathogenic
Select item 155490	GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	LOC130062726, LOC130062727 +282 more	Copy number loss	See cases	GPathogenic
Select item 144342	GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	ADNP2, ATP9B +279 more	Copy number loss	See cases	GPathogenic
Select item 60033	GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	ADNP2, ATP9B +279 more	Copy number loss	See cases	GPathogenic
Select item 1684631	Single allele	LINC01893, LOC126862798 +279 more	Deletion	Pulmonary valve stenosis +10 more	GPathogenic
Select item 149195	GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	LOC132090511, LOC132090512 +278 more	Copy number loss	See cases	GPathogenic
Select item 146547	GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	ADNP2, ATP9B +248 more	Copy number loss	See cases	GPathogenic
Select item 150633	GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3	ADNP2, ATP9B +241 more	Copy number gain	See cases	GPathogenic
Select item 149476	GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 146226	GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 155129	GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	LOC130062739, LOC130062740 +238 more	Copy number loss	See cases	GPathogenic
Select item 149757	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1	ADNP2, ATP9B +230 more	Copy number loss	See cases	GPathogenic
Select item 149756	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3	LOC126862797, LOC126862798 +230 more	Copy number gain	See cases	GPathogenic
Select item 60034	GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	ATP9B, C18orf63 +149 more	Copy number loss	See cases	GPathogenic
Select item 146881	GRCh38/hg38 18q22.3(chr18:74416892-74651188)x3	CNDP1, CNDP2 +14 more	Copy number gain	See cases	GLikely benign
Select item 154542	GRCh38/hg38 18q22.3(chr18:74497831-74631495)x3	CNDP1, CNDP2 +7 more	Copy number gain	See cases	GBenign
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 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 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 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 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 788917	NM_018235.3(CNDP2):c.104C>T (p.Pro35Leu)	CNDP2 (P35L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 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 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 774950	NM_018235.3(CNDP2):c.367+9C>T	CNDP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 779983	NM_018235.3(CNDP2):c.414C>T (p.Ala138=)	CNDP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 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 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 754824	NM_018235.3(CNDP2):c.486C>T (p.Leu162=)	CNDP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 3268092	NM_018235.3(CNDP2):c.1013G>A (p.Gly338Asp)	CNDP2 (G254D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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