ClinVar for Gene (Select 92126) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273846	NM_032160.3(DSEL):c.110A>G (p.Asp37Gly)	DSEL (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273844	NM_032160.3(DSEL):c.164A>C (p.Lys55Thr)	DSEL (K55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273843	NM_032160.3(DSEL):c.1246G>T (p.Gly416Cys)	DSEL (G416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273842	NM_032160.3(DSEL):c.767A>T (p.Asp256Val)	DSEL (D256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273841	NM_032160.3(DSEL):c.2143G>T (p.Val715Phe)	DSEL (V715F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273840	NM_032160.3(DSEL):c.887G>A (p.Arg296His)	DSEL (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273839	NM_032160.3(DSEL):c.2735G>T (p.Arg912Leu)	DSEL (R912L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273838	NM_032160.3(DSEL):c.3605T>G (p.Met1202Arg)	DSEL (M1202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273837	NM_032160.3(DSEL):c.2324C>T (p.Ala775Val)	DSEL (A775V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273836	NM_032160.3(DSEL):c.223A>T (p.Met75Leu)	DSEL (M75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273835	NM_032160.3(DSEL):c.178A>T (p.Met60Leu)	DSEL (M60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273833	NM_032160.3(DSEL):c.322C>G (p.Pro108Ala)	DSEL (P108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085937	NM_032160.3(DSEL):c.886C>T (p.Arg296Cys)	DSEL (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085935	NM_032160.3(DSEL):c.3559C>A (p.Pro1187Thr)	DSEL (P1187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085934	NM_032160.3(DSEL):c.3355C>G (p.Pro1119Ala)	DSEL (P1119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085933	NM_032160.3(DSEL):c.3245A>C (p.Glu1082Ala)	DSEL (E1082A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085932	NM_032160.3(DSEL):c.2903C>T (p.Pro968Leu)	DSEL (P968L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085929	NM_032160.3(DSEL):c.1841A>G (p.Tyr614Cys)	DSEL (Y614C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085928	NM_032160.3(DSEL):c.1669G>A (p.Val557Met)	DSEL (V557M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085926	NM_032160.3(DSEL):c.1186C>G (p.Leu396Val)	DSEL (L396V)	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 2685625	GRCh37/hg19 18q22.1-22.3(chr18:64152677-69191894)x1	CCDC102B, CD226 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2648797	NM_032160.3(DSEL):c.577A>C (p.Arg193=)	DSEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623593	NM_032160.3(DSEL):c.3562A>G (p.Arg1188Gly)	DSEL (R1188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619124	NM_032160.3(DSEL):c.2474A>G (p.Gln825Arg)	DSEL (Q825R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618247	NM_032160.3(DSEL):c.845A>G (p.Tyr282Cys)	DSEL (Y282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604907	NM_032160.3(DSEL):c.640C>T (p.Arg214Cys)	DSEL (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602489	NM_032160.3(DSEL):c.2750G>A (p.Arg917His)	DSEL (R917H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598455	NM_032160.3(DSEL):c.1859A>G (p.Tyr620Cys)	DSEL (Y620C)	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 2558036	NM_032160.3(DSEL):c.1700A>G (p.Lys567Arg)	DSEL (K567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557620	NM_032160.3(DSEL):c.158A>G (p.Asn53Ser)	DSEL (N53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548762	NM_032160.3(DSEL):c.634A>G (p.Lys212Glu)	DSEL (K212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546937	NM_032160.3(DSEL):c.3566A>G (p.Asp1189Gly)	DSEL (D1189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541906	NM_032160.3(DSEL):c.601T>C (p.Trp201Arg)	DSEL (W201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532535	NM_032160.3(DSEL):c.22C>A (p.His8Asn)	DSEL (H8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529002	NM_032160.3(DSEL):c.1392C>G (p.Asn464Lys)	DSEL (N464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526855	NM_032160.3(DSEL):c.1600G>C (p.Gly534Arg)	DSEL (G534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508843	NM_032160.3(DSEL):c.1915C>A (p.His639Asn)	DSEL (H639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495043	NM_032160.3(DSEL):c.502G>A (p.Val168Ile)	DSEL (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487327	NM_032160.3(DSEL):c.211G>A (p.Glu71Lys)	DSEL (E71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487153	NM_032160.3(DSEL):c.1618A>G (p.Ile540Val)	DSEL (I540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484471	NM_032160.3(DSEL):c.3050A>G (p.Gln1017Arg)	DSEL (Q1017R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467408	NM_032160.3(DSEL):c.113A>T (p.Asp38Val)	DSEL (D38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410867	NM_032160.3(DSEL):c.1108A>G (p.Lys370Glu)	DSEL (K370E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404298	NM_032160.3(DSEL):c.329A>T (p.His110Leu)	DSEL (H110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402036	NM_032160.3(DSEL):c.-1C>G	DSEL	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2393254	NM_032160.3(DSEL):c.1328G>A (p.Arg443Gln)	DSEL (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373348	NM_032160.3(DSEL):c.1061A>C (p.Asn354Thr)	DSEL (N354T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365526	NM_032160.3(DSEL):c.2240G>A (p.Arg747Gln)	DSEL (R747Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361943	NM_032160.3(DSEL):c.1767G>C (p.Arg589Ser)	DSEL (R589S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359690	NM_032160.3(DSEL):c.2090G>C (p.Ser697Thr)	DSEL (S697T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342810	NM_032160.3(DSEL):c.2405G>A (p.Arg802Gln)	DSEL (R802Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331331	NM_032160.3(DSEL):c.2734C>T (p.Arg912Cys)	DSEL (R912C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326854	NM_032160.3(DSEL):c.3329C>T (p.Ala1110Val)	DSEL (A1110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317704	NM_032160.3(DSEL):c.1477A>C (p.Lys493Gln)	DSEL (K493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314825	NM_032160.3(DSEL):c.1439A>G (p.Asn480Ser)	DSEL (N480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289344	NM_032160.3(DSEL):c.976A>G (p.Thr326Ala)	DSEL (T326A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276991	NM_032160.3(DSEL):c.1712G>A (p.Arg571His)	DSEL (R571H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272192	NM_032160.3(DSEL):c.832G>A (p.Ala278Thr)	DSEL (A278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267591	NM_032160.3(DSEL):c.1694G>A (p.Arg565Lys)	DSEL (R565K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266609	NM_032160.3(DSEL):c.2929G>A (p.Ala977Thr)	DSEL (A977T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257798	NM_032160.3(DSEL):c.3067T>C (p.Ser1023Pro)	DSEL (S1023P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252106	NM_032160.3(DSEL):c.328C>T (p.His110Tyr)	DSEL (H110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244106	NM_032160.3(DSEL):c.3242A>G (p.Tyr1081Cys)	DSEL (Y1081C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227136	NM_032160.3(DSEL):c.2789C>T (p.Thr930Ile)	DSEL (T930I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226503	NM_032160.3(DSEL):c.61A>G (p.Thr21Ala)	DSEL (T21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224073	NM_032160.3(DSEL):c.190A>G (p.Ser64Gly)	DSEL (S64G)	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 1808391	GRCh37/hg19 18q22.1(chr18:64565715-66471864)x3	CCDC102B, DSEL +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807837	GRCh37/hg19 18q22.1(chr18:64432327-66522571)x1	CCDC102B, DSEL +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807823	GRCh37/hg19 18q22.1-22.2(chr18:63826068-67913864)x1	CCDC102B, CD226 +5 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 1526635	GRCh37/hg19 18q22.1(chr18:65059521-65453897)	DSEL	Copy number loss	not specified	GUncertain significance
Select item 1526634	GRCh37/hg19 18q22.1-22.2(chr18:64501813-67982798)	CCDC102B, CD226 +5 more	Copy number loss	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 1340955	GRCh37/hg19 18q22.1(chr18:64270518-66179072)x3	CDH19, DSEL	Copy number gain	not provided	GLikely benign
Select item 1340507	GRCh37/hg19 18q22.1(chr18:64878845-65963917)x1	DSEL	Copy number loss	not provided	GLikely benign
Select item 1340446	GRCh37/hg19 18q22.1(chr18:65136212-65275823)x1	DSEL	Copy number loss	not provided	GLikely benign
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 980184	GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3	PTGR3, SOCS6 +36 more	Copy number gain	not provided	GLikely pathogenic
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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