ClinVar for Gene (Select 1005) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265332	NM_004361.5(CDH7):c.1937T>A (p.Ile646Asn)	CDH7, LOC126862782 (I646N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265331	NM_004361.5(CDH7):c.1534T>C (p.Ser512Pro)	CDH7 (S512P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265330	NM_004361.5(CDH7):c.1909C>A (p.Pro637Thr)	CDH7, LOC126862782 (P637T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265329	NM_004361.5(CDH7):c.901A>G (p.Ile301Val)	CDH7 (I301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265328	NM_004361.5(CDH7):c.651C>G (p.Asn217Lys)	CDH7 (N217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265327	NM_004361.5(CDH7):c.1487C>A (p.Pro496Gln)	CDH7 (P496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265326	NM_004361.5(CDH7):c.1873C>T (p.Leu625Phe)	CDH7, LOC126862782 (L625F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141332	NM_004361.5(CDH7):c.932A>G (p.Lys311Arg)	CDH7 (K311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141331	NM_004361.5(CDH7):c.2320G>A (p.Asp774Asn)	CDH7, LOC126862782 (D774N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141330	NM_004361.5(CDH7):c.2114T>C (p.Val705Ala)	CDH7, LOC126862782 (V705A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141329	NM_004361.5(CDH7):c.2026G>A (p.Val676Ile)	CDH7, LOC126862782 (V676I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141327	NM_004361.5(CDH7):c.1918T>C (p.Phe640Leu)	CDH7, LOC126862782 (F640L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141326	NM_004361.5(CDH7):c.1706C>A (p.Ser569Tyr)	CDH7 (S569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141325	NM_004361.5(CDH7):c.1694T>G (p.Val565Gly)	CDH7 (V565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141324	NM_004361.5(CDH7):c.1684A>G (p.Ile562Val)	CDH7 (I562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141323	NM_004361.5(CDH7):c.1217C>A (p.Ser406Tyr)	CDH7 (S406Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141322	NM_004361.5(CDH7):c.1161G>A (p.Ser387=)	CDH7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3141321	NM_004361.5(CDH7):c.1147C>G (p.Pro383Ala)	CDH7 (P383A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141320	NM_004361.5(CDH7):c.1108G>A (p.Asp370Asn)	CDH7 (D370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141318	NM_004361.5(CDH7):c.1013C>T (p.Thr338Met)	CDH7 (T338M)	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 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 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2614913	NM_004361.5(CDH7):c.1651C>T (p.Arg551Trp)	CDH7 (R551W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602275	NM_004361.5(CDH7):c.1645G>A (p.Gly549Ser)	CDH7 (G549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591743	NM_004361.5(CDH7):c.475A>G (p.Thr159Ala)	CDH7 (T159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591639	NM_004361.5(CDH7):c.800A>G (p.Tyr267Cys)	CDH7 (Y267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588860	NM_004361.5(CDH7):c.806A>G (p.Tyr269Cys)	CDH7 (Y269C)	Single nucleotide variant (missense variant)	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 2520790	NM_004361.5(CDH7):c.1100T>C (p.Ile367Thr)	CDH7 (I367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516964	NM_004361.5(CDH7):c.1084A>G (p.Thr362Ala)	CDH7 (T362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515425	NM_004361.5(CDH7):c.1640G>C (p.Arg547Thr)	CDH7 (R547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509060	NM_004361.5(CDH7):c.1732C>G (p.Leu578Val)	CDH7 (L578V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494011	NM_004361.5(CDH7):c.278C>G (p.Ser93Cys)	CDH7 (S93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491374	NM_004361.5(CDH7):c.1631T>G (p.Leu544Arg)	CDH7 (L544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478120	NM_004361.5(CDH7):c.685G>A (p.Val229Ile)	CDH7 (V229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476355	NM_004361.5(CDH7):c.1852T>G (p.Leu618Val)	CDH7 (L618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473873	NM_004361.5(CDH7):c.1900A>G (p.Lys634Glu)	CDH7, LOC126862782 (K634E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466638	NM_004361.5(CDH7):c.953C>A (p.Thr318Asn)	CDH7 (T318N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463644	NM_004361.5(CDH7):c.397G>A (p.Val133Met)	CDH7 (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409607	NM_004361.5(CDH7):c.1923C>A (p.Asp641Glu)	CDH7, LOC126862782 (D641E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369342	NM_004361.5(CDH7):c.1082C>T (p.Thr361Met)	CDH7 (T361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350185	NM_004361.5(CDH7):c.2002A>G (p.Met668Val)	CDH7, LOC126862782 (M668V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348726	NM_004361.5(CDH7):c.839T>C (p.Val280Ala)	CDH7 (V280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347837	NM_004361.5(CDH7):c.2256C>G (p.Ser752Arg)	CDH7, LOC126862782 (S752R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295436	NM_004361.5(CDH7):c.887A>T (p.Glu296Val)	CDH7 (E296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271835	NM_004361.5(CDH7):c.2015G>A (p.Arg672Lys)	CDH7, LOC126862782 (R672K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262500	NM_004361.5(CDH7):c.1904A>G (p.Lys635Arg)	CDH7, LOC126862782 (K635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260519	NM_004361.5(CDH7):c.1606A>T (p.Asn536Tyr)	CDH7 (N536Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215720	NM_004361.5(CDH7):c.1886C>G (p.Thr629Ser)	CDH7, LOC126862782 (T629S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809334	GRCh37/hg19 18q22.1(chr18:62201144-66432957)x1	CCDC102B, CDH19 +3 more	Copy number loss	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 1808243	GRCh37/hg19 18q21.33-22.1(chr18:61483089-64304841)x1	CDH19, CDH7 +4 more	Copy number loss	not provided	GUncertain significance
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 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 1526620	GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	ALPK2, ATP8B1 +52 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 1297970	NM_004361.5(CDH7):c.1495-300G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295063	NM_004361.5(CDH7):c.1851C>T (p.Val617=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1294849	NM_004361.5(CDH7):c.1612+24A>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294828	NM_004361.5(CDH7):c.1727A>G (p.Asn576Ser)	CDH7 (N576S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1294807	NM_004361.5(CDH7):c.981+132A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294757	NM_004361.5(CDH7):c.210+205A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282023	NM_004361.5(CDH7):c.506-307A>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277699	NM_004361.5(CDH7):c.211-130C>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276045	NM_004361.5(CDH7):c.1372+312G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275553	NM_004361.5(CDH7):c.794-83A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274041	NM_004361.5(CDH7):c.626-158C>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273682	NM_004361.5(CDH7):c.1110T>C (p.Asp370=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270991	NM_004361.5(CDH7):c.793+177G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269871	NM_004361.5(CDH7):c.1612+81T>C	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269162	NM_004361.5(CDH7):c.210+56T>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261986	NM_004361.5(CDH7):c.687C>T (p.Val229=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1258791	NM_004361.5(CDH7):c.1612+296A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257555	NM_004361.5(CDH7):c.982-228G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253145	NM_004361.5(CDH7):c.981+106del	CDH7	Deletion (intron variant)	not provided	GBenign
Select item 1252647	NM_004361.5(CDH7):c.1612+188T>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252353	NM_004361.5(CDH7):c.1864+225A>G	CDH7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251535	NM_004361.5(CDH7):c.1612+22C>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248353	NM_004361.5(CDH7):c.626-74C>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244452	NM_004361.5(CDH7):c.477G>A (p.Thr159=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1243326	NM_004361.5(CDH7):c.210+52G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225905	NM_004361.5(CDH7):c.1373-226T>C	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224024	NM_004361.5(CDH7):c.626-303A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1179601	NM_004361.5(CDH7):c.-173C>A	CDH7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 980181	GRCh37/hg19 18q22.1(chr18:63057625-66617881)x3	CDH19, TMX3 +3 more	Copy number gain	not provided	GUncertain significance

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