ClinVar for Gene (Select 60437) - ClinVar

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265299	NM_177980.4(CDH26):c.373G>C (p.Glu125Gln)	CDH26 (E125Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265298	NM_177980.4(CDH26):c.1982T>A (p.Val661Asp)	CDH26 (V661D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3265297	NM_177980.4(CDH26):c.2207T>C (p.Ile736Thr)	CDH26 (I69T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3265296	NM_177980.4(CDH26):c.389T>C (p.Phe130Ser)	CDH26 (F130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265295	NM_177980.4(CDH26):c.135C>G (p.Ile45Met)	CDH26 (I45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265294	NM_177980.4(CDH26):c.831G>C (p.Gln277His)	CDH26 (Q277H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265292	NM_177980.4(CDH26):c.1153G>A (p.Val385Met)	CDH26 (V385M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265291	NM_177980.4(CDH26):c.1321G>A (p.Val441Ile)	CDH26 (V441I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265290	NM_177980.4(CDH26):c.326A>G (p.Glu109Gly)	CDH26 (E109G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3141264	NM_177980.4(CDH26):c.998A>G (p.Asn333Ser)	CDH26 (N333S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141263	NM_177980.4(CDH26):c.944T>C (p.Ile315Thr)	CDH26 (I315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141262	NM_177980.4(CDH26):c.764T>C (p.Leu255Pro)	CDH26 (L255P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141261	NM_177980.4(CDH26):c.550A>G (p.Ile184Val)	CDH26 (I184V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141260	NM_177980.4(CDH26):c.416G>T (p.Arg139Leu)	CDH26 (R139L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141259	NM_177980.4(CDH26):c.2485G>A (p.Gly829Ser)	CDH26 (G162S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141258	NM_177980.4(CDH26):c.2407G>A (p.Glu803Lys)	CDH26 (E136K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141257	NM_177980.4(CDH26):c.2355C>A (p.Ser785Arg)	CDH26 (S77R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141256	NM_177980.4(CDH26):c.232C>G (p.Leu78Val)	CDH26 (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141255	NM_177980.4(CDH26):c.2263G>A (p.Val755Met)	CDH26 (V47M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141254	NM_177980.4(CDH26):c.1793C>G (p.Ala598Gly)	CDH26 (A598G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141253	NM_177980.4(CDH26):c.1786C>G (p.Pro596Ala)	CDH26 (P596A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141252	NM_177980.4(CDH26):c.1675G>C (p.Val559Leu)	CDH26 (V559L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141251	NM_177980.4(CDH26):c.1652T>C (p.Leu551Ser)	CDH26 (L551S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141250	NM_177980.4(CDH26):c.1372T>A (p.Ser458Thr)	CDH26 (S458T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141249	NM_177980.4(CDH26):c.1369G>A (p.Glu457Lys)	CDH26 (E457K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141248	NM_177980.4(CDH26):c.1351G>A (p.Val451Met)	CDH26 (V451M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141247	NM_177980.4(CDH26):c.133A>G (p.Ile45Val)	CDH26 (I45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141246	NM_177980.4(CDH26):c.1216G>A (p.Glu406Lys)	CDH26 (E406K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3141245	NM_177980.4(CDH26):c.1204A>T (p.Ile402Phe)	CDH26 (I402F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141244	NM_177980.4(CDH26):c.1049C>T (p.Ala350Val)	CDH26 (A350V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3141243	NM_177980.4(CDH26):c.1024C>G (p.Pro342Ala)	CDH26 (P342A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616916	NM_177980.4(CDH26):c.922G>T (p.Ala308Ser)	CDH26 (A308S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608471	NM_177980.4(CDH26):c.1894C>G (p.Leu632Val)	CDH26 (L632V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608005	NM_177980.4(CDH26):c.1879G>A (p.Ala627Thr)	CDH26 (A627T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596868	NM_177980.4(CDH26):c.2410C>G (p.Gln804Glu)	CDH26 (Q804E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593631	NM_177980.4(CDH26):c.16G>A (p.Gly6Arg)	CDH26 (G6R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2554994	NM_177980.4(CDH26):c.332A>G (p.His111Arg)	CDH26 (H111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551520	NM_177980.4(CDH26):c.2356G>A (p.Glu786Lys)	CDH26 (E78K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547727	NM_177980.4(CDH26):c.877G>A (p.Val293Met)	CDH26 (V293M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530622	NM_177980.4(CDH26):c.1488C>A (p.Asn496Lys)	CDH26 (N496K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525486	NM_177980.4(CDH26):c.1118C>T (p.Pro373Leu)	CDH26 (P373L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523109	NM_177980.4(CDH26):c.359G>A (p.Arg120His)	CDH26 (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517811	NM_177980.4(CDH26):c.256A>G (p.Met86Val)	CDH26 (M86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512331	NM_177980.4(CDH26):c.2133G>T (p.Gln711His)	CDH26 (Q44H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496501	NM_177980.4(CDH26):c.109C>A (p.Leu37Ile)	CDH26 (L37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457252	NM_177980.4(CDH26):c.2332G>A (p.Gly778Ser)	CDH26 (G111S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2410904	NM_177980.4(CDH26):c.43C>G (p.Leu15Val)	CDH26 (L15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389343	NM_177980.4(CDH26):c.1815G>C (p.Glu605Asp)	CDH26 (E605D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384144	NM_177980.4(CDH26):c.1790G>T (p.Cys597Phe)	CDH26 (C597F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377413	NM_177980.4(CDH26):c.1168G>A (p.Ala390Thr)	CDH26 (A390T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372342	NM_177980.4(CDH26):c.1207G>T (p.Val403Phe)	CDH26 (V403F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364656	NM_177980.4(CDH26):c.2422C>T (p.Pro808Ser)	CDH26 (P808S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338455	NM_177980.4(CDH26):c.148C>G (p.Arg50Gly)	CDH26 (R50G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336010	NM_177980.4(CDH26):c.2444G>T (p.Gly815Val)	CDH26 (G148V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318312	NM_177980.4(CDH26):c.2069C>G (p.Ala690Gly)	CDH26 (A23G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312243	NM_177980.4(CDH26):c.1999A>G (p.Ser667Gly)	CDH26 (S667G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307305	NM_177980.4(CDH26):c.1340T>C (p.Val447Ala)	CDH26 (V447A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300790	NM_177980.4(CDH26):c.1397A>G (p.Tyr466Cys)	CDH26 (Y466C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299477	NM_177980.4(CDH26):c.1157A>G (p.Gln386Arg)	CDH26 (Q386R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297910	NM_177980.4(CDH26):c.1193C>T (p.Pro398Leu)	CDH26 (P398L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297373	NM_177980.4(CDH26):c.1654G>A (p.Gly552Arg)	CDH26 (G552R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293025	NM_177980.4(CDH26):c.877G>C (p.Val293Leu)	CDH26 (V293L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290930	NM_177980.4(CDH26):c.1996G>A (p.Glu666Lys)	CDH26 (E666K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253667	NM_177980.4(CDH26):c.1874T>C (p.Phe625Ser)	CDH26 (F625S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244468	NM_177980.4(CDH26):c.655C>T (p.Arg219Trp)	CDH26 (R219W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243840	NM_177980.4(CDH26):c.2480A>G (p.Glu827Gly)	CDH26 (E119G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236156	NM_177980.4(CDH26):c.2276T>C (p.Met759Thr)	CDH26 (M51T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233021	NM_177980.4(CDH26):c.307A>T (p.Ile103Phe)	CDH26 (I103F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231621	NM_177980.4(CDH26):c.1705C>T (p.Arg569Cys)	CDH26 (R569C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228581	NM_177980.4(CDH26):c.2090G>C (p.Gly697Ala)	CDH26 (G697A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212421	NM_177980.4(CDH26):c.1284A>C (p.Arg428Ser)	CDH26 (R428S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209525	NM_177980.4(CDH26):c.2221G>C (p.Ala741Pro)	CDH26 (A74P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564642	GRCh37/hg19 20q13.32-13.33(chr20:58342058-59978526)x3	LINC02910, CDH4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 221548	GRCh37/hg19 20q13.33(chr20:58444946-58533817)x3	CDH26, FAM217B +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 91