CDH19[gene] - 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 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
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 153691	GRCh38/hg38 18q21.33-22.1(chr18:63819028-66637566)x1	CDH19, CDH7 +21 more	Copy number loss	See cases	GUncertain significance
Select item 146120	GRCh38/hg38 18q21.33-22.1(chr18:63846473-66558774)x1	CDH19, CDH7 +21 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 154758	GRCh38/hg38 18q22.1(chr18:66242392-66790287)x1	CDH19	Copy number loss	See cases	GLikely benign
Select item 57463	GRCh38/hg38 18q22.1(chr18:66242508-66790270)x1	CDH19	Copy number loss	See cases	GUncertain significance
Select item 152362	GRCh38/hg38 18q22.1(chr18:66379346-67471172)x3	CDH19, LOC129391004 +2 more	Copy number gain	See cases	GLikely benign
Select item 153572	GRCh38/hg38 18q22.1(chr18:66417411-66663016)x1	CDH19	Copy number loss	See cases	GLikely benign
Select item 221763	GRCh38/hg38 18q22.1(chr18:66419523-66667666)x1	CDH19	Copy number loss	Premature ovarian failure	GBenign
Select item 152855	GRCh38/hg38 18q22.1(chr18:66437554-66649096)x1	CDH19	Copy number loss	See cases	GUncertain significance
Select item 154000	GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 2282772	NM_021153.4(CDH19):c.2254G>A (p.Glu752Lys)	CDH19 (E752K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2287268	NM_021153.4(CDH19):c.2207T>C (p.Leu736Ser)	CDH19 (L736S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3052874	NM_021153.4(CDH19):c.2180G>T (p.Gly727Val)	CDH19 (G727V)	Single nucleotide variant (3 prime UTR variant +2 more)	CDH19-related disorder	GBenign
Select item 3035276	NM_021153.4(CDH19):c.2134G>A (p.Ala712Thr)	CDH19 (A712T)	Single nucleotide variant (3 prime UTR variant +2 more)	CDH19-related disorder	GBenign
Select item 2487711	NM_021153.4(CDH19):c.2062G>A (p.Val688Ile)	CDH19 (V688I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141177	NM_021153.4(CDH19):c.2045A>T (p.Tyr682Phe)	CDH19 (Y682F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3056634	NM_021153.4(CDH19):c.1958C>A (p.Ala653Asp)	CDH19 (A653D)	Single nucleotide variant (3 prime UTR variant +2 more)	CDH19-related disorder	GBenign
Select item 3037960	NM_021153.4(CDH19):c.1936G>A (p.Gly646Ser)	CDH19 (G646S)	Single nucleotide variant (3 prime UTR variant +2 more)	CDH19-related disorder	GLikely benign
Select item 2495932	NM_021153.4(CDH19):c.1909A>G (p.Asn637Asp)	CDH19 (N637D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2313488	NM_021153.4(CDH19):c.1870C>A (p.Gln624Lys)	CDH19 (Q624K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2367881	NM_021153.4(CDH19):c.1862G>A (p.Arg621Gln)	CDH19 (R621Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141176	NM_021153.4(CDH19):c.1854A>C (p.Leu618Phe)	CDH19 (L618F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2253967	NM_021153.4(CDH19):c.1803T>G (p.Ile601Met)	CDH19 (I601M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3059447	NM_021153.4(CDH19):c.1791C>T (p.Val597=)	CDH19	Single nucleotide variant (synonymous variant +2 more)	CDH19-related disorder	GBenign
Select item 2309963	NM_021153.4(CDH19):c.1775G>C (p.Gly592Ala)	CDH19 (G592A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3265213	NM_021153.4(CDH19):c.1739A>G (p.Gln580Arg)	CDH19 (Q580R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2412270	NM_021153.4(CDH19):c.1718G>A (p.Cys573Tyr)	CDH19 (C573Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300091	NM_021153.4(CDH19):c.1696C>T (p.Leu566Phe)	CDH19 (L566F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 770649	NM_021153.4(CDH19):c.1674G>A (p.Pro558=)	CDH19	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2461879	NM_021153.4(CDH19):c.1631C>T (p.Pro544Leu)	CDH19 (P544L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313875	NM_021153.4(CDH19):c.1543A>T (p.Asn515Tyr)	CDH19 (N515Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516375	NM_021153.4(CDH19):c.1457A>G (p.Gln486Arg)	CDH19 (Q486R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141174	NM_021153.4(CDH19):c.1400C>T (p.Ala467Val)	CDH19 (A467V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225462	NM_021153.4(CDH19):c.1358C>T (p.Ser453Leu)	CDH19 (S453L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141173	NM_021153.4(CDH19):c.1340A>G (p.Asn447Ser)	CDH19 (N447S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300021	NM_021153.4(CDH19):c.1232G>A (p.Ser411Asn)	CDH19 (S411N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040895	NM_021153.4(CDH19):c.1222A>G (p.Ile408Val)	CDH19 (I408V)	Single nucleotide variant (missense variant +1 more)	CDH19-related disorder	GLikely benign
Select item 3043319	NM_021153.4(CDH19):c.1214+8T>C	CDH19	Single nucleotide variant (intron variant)	CDH19-related disorder	GLikely benign
Select item 2548903	NM_021153.4(CDH19):c.1148C>G (p.Thr383Ser)	CDH19 (T383S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2602542	NM_021153.4(CDH19):c.1133A>C (p.Glu378Ala)	CDH19 (E378A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034498	NM_021153.4(CDH19):c.1079A>G (p.Gln360Arg)	CDH19 (Q360R)	Single nucleotide variant (missense variant +1 more)	CDH19-related disorder	GLikely benign
Select item 2318092	NM_021153.4(CDH19):c.1070T>C (p.Ile357Thr)	CDH19 (I357T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619486	NM_021153.4(CDH19):c.1058C>T (p.Ser353Phe)	CDH19 (S353F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141172	NM_021153.4(CDH19):c.1055C>T (p.Ala352Val)	CDH19 (A352V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141171	NM_021153.4(CDH19):c.1037T>C (p.Met346Thr)	CDH19 (M346T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141170	NM_021153.4(CDH19):c.1028A>G (p.Glu343Gly)	CDH19 (E343G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265216	NM_021153.4(CDH19):c.1027G>C (p.Glu343Gln)	CDH19 (E343Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141169	NM_021153.4(CDH19):c.1016A>C (p.His339Pro)	CDH19 (H339P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141168	NM_021153.4(CDH19):c.1013A>T (p.Asn338Ile)	CDH19 (N338I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546997	NM_021153.4(CDH19):c.981G>C (p.Gln327His)	CDH19 (Q327H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708467	NM_021153.4(CDH19):c.977A>C (p.His326Pro)	CDH19 (H326P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3358007	NM_021153.4(CDH19):c.954A>T (p.Leu318Phe)	CDH19 (L318F)	Single nucleotide variant (missense variant +1 more)	CDH19-related disorder	GUncertain significance
Select item 2317341	NM_021153.4(CDH19):c.932C>G (p.Thr311Ser)	CDH19 (T311S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288861	NM_021153.4(CDH19):c.927T>A (p.His309Gln)	CDH19 (H309Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485810	NM_021153.4(CDH19):c.823A>C (p.Ile275Leu)	CDH19 (I275L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265211	NM_021153.4(CDH19):c.811A>T (p.Thr271Ser)	CDH19 (T271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332750	NM_021153.4(CDH19):c.772G>A (p.Glu258Lys)	CDH19 (E258K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218385	NM_021153.4(CDH19):c.733A>G (p.Lys245Glu)	CDH19 (K245E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608175	NM_021153.4(CDH19):c.704C>T (p.Ala235Val)	CDH19 (A235V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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