57609[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 970	fragile site, folic acid type, rare, fra(12)(q13.1)	DIP2B, FRA12A +1 more	Insertion	Intellectual disability, FRA12A type	GPathogenic
Select item 2642993	NM_173602.3(DIP2B):c.-116_34del (p.Met1_Ala12del)	DIP2B, FRA12A	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2467449	NM_173602.3(DIP2B):c.11G>C (p.Arg4Pro)	DIP2B (R4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440790	NM_173602.3(DIP2B):c.26C>T (p.Ser9Leu)	DIP2B (S9L)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2642994	NM_173602.3(DIP2B):c.33C>G (p.Ala11=)	DIP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269842	NM_173602.3(DIP2B):c.41C>T (p.Ala14Val)	DIP2B (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612464	NM_173602.3(DIP2B):c.50C>T (p.Pro17Leu)	DIP2B (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152631	GRCh38/hg38 12q13.12(chr12:50600204-50953386)x3	ATF1, DIP2B +14 more	Copy number gain	See cases	GUncertain significance
Select item 731362	NM_173602.3(DIP2B):c.144C>T (p.Leu48=)	DIP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082435	NM_173602.3(DIP2B):c.161C>T (p.Pro54Leu)	DIP2B (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 3082438	NM_173602.3(DIP2B):c.218C>T (p.Ala73Val)	DIP2B (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556344	NM_173602.3(DIP2B):c.239C>A (p.Ser80Tyr)	DIP2B (S80Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067623	NM_173602.3(DIP2B):c.259C>T (p.Arg87Ter)	DIP2B (R87*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3082440	NM_173602.3(DIP2B):c.290G>A (p.Arg97Gln)	DIP2B (R97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082445	NM_173602.3(DIP2B):c.355A>G (p.Met119Val)	DIP2B (M119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312802	NM_173602.3(DIP2B):c.510T>G (p.Asn170Lys)	DIP2B (N170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628705	NM_173602.3(DIP2B):c.515A>C (p.Glu172Ala)	DIP2B (E172A)	Single nucleotide variant (missense variant)	DIP2B-related condition	GUncertain significance
Select item 930932	NM_173602.3(DIP2B):c.685T>A (p.Ser229Thr)	DIP2B (S229T)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2429316	NM_173602.3(DIP2B):c.692C>G (p.Ser231Ter)	DIP2B (S231*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2440793	NM_173602.3(DIP2B):c.712G>A (p.Ala238Thr)	DIP2B (A238T)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 3082451	NM_173602.3(DIP2B):c.715A>G (p.Asn239Asp)	DIP2B (N239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604720	NM_173602.3(DIP2B):c.723C>A (p.Asp241Glu)	DIP2B (D241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068829	NM_173602.3(DIP2B):c.730C>G (p.Pro244Ala)	DIP2B (P244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 377262	NM_173602.3(DIP2B):c.793G>A (p.Asp265Asn)	DIP2B (D265N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1710440	NM_173602.3(DIP2B):c.888dup (p.Val297fs)	DIP2B (V297fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 376904	NM_173602.3(DIP2B):c.998G>C (p.Cys333Ser)	DIP2B (C333S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440791	NM_173602.3(DIP2B):c.1027_1029delinsTT (p.Leu343fs)	DIP2B (L343fs)	Indel (frameshift variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2333329	NM_173602.3(DIP2B):c.1033C>T (p.Arg345Cys)	DIP2B (R345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064403	NM_173602.3(DIP2B):c.1034G>A (p.Arg345His)	DIP2B (R345H)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 783661	NM_173602.3(DIP2B):c.1046C>G (p.Thr349Ser)	DIP2B (T349S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 445445	NM_173602.3(DIP2B):c.1060T>C (p.Ser354Pro)	DIP2B (S354P)	Single nucleotide variant (missense variant)	DIP2B-related condition +1 more	GLikely benign
Select item 2613532	NM_173602.3(DIP2B):c.1100A>G (p.Tyr367Cys)	DIP2B (Y367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558882	NM_173602.3(DIP2B):c.1102A>G (p.Thr368Ala)	DIP2B (T368A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267381	NM_173602.3(DIP2B):c.1294A>G (p.Ile432Val)	DIP2B (I432V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037939	NM_173602.3(DIP2B):c.1450C>T (p.Arg484Trp)	DIP2B (R484W)	Single nucleotide variant (missense variant)	DIP2B-related condition	GBenign
Select item 3040366	NM_173602.3(DIP2B):c.1475C>A (p.Ser492Tyr)	DIP2B (S492Y)	Single nucleotide variant (missense variant)	DIP2B-related condition	GLikely benign
Select item 3082433	NM_173602.3(DIP2B):c.1479G>C (p.Lys493Asn)	DIP2B (K493N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440789	NM_173602.3(DIP2B):c.1502A>T (p.Asp501Val)	DIP2B (D501V)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 3082434	NM_173602.3(DIP2B):c.1520C>T (p.Ser507Leu)	DIP2B (S507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1806377	NM_173602.3(DIP2B):c.1537C>T (p.Pro513Ser)	DIP2B (P513S)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 1330297	NM_173602.3(DIP2B):c.1567G>C (p.Glu523Gln)	DIP2B (E523Q)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2467971	NM_173602.3(DIP2B):c.1598G>A (p.Arg533Gln)	DIP2B (R533Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375619	NM_173602.3(DIP2B):c.1606A>G (p.Met536Val)	DIP2B (M536V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789047	NM_173602.3(DIP2B):c.1632G>A (p.Ser544=)	DIP2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3042790	NM_173602.3(DIP2B):c.1654+10C>T	DIP2B	Single nucleotide variant (intron variant)	DIP2B-related condition	GLikely benign
Select item 2440788	NM_173602.3(DIP2B):c.1672G>A (p.Val558Ile)	DIP2B (V558I)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2251191	NM_173602.3(DIP2B):c.1711A>G (p.Met571Val)	DIP2B (M571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068830	NM_173602.3(DIP2B):c.1749C>T (p.Ser583=)	DIP2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2440795	NM_173602.3(DIP2B):c.1750G>A (p.Val584Ile)	DIP2B (V584I)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type +1 more	GUncertain significance
Select item 1255500	NM_173602.3(DIP2B):c.1814-15T>C	DIP2B	Single nucleotide variant (intron variant)	Intellectual disability, FRA12A type	GBenign
Select item 2554288	NM_173602.3(DIP2B):c.1829T>C (p.Val610Ala)	DIP2B (V610A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225186	NM_173602.3(DIP2B):c.1901G>A (p.Arg634Gln)	DIP2B (R634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255501	NM_173602.3(DIP2B):c.1917T>A (p.Thr639=)	DIP2B	Single nucleotide variant (synonymous variant)	Intellectual disability, FRA12A type +1 more	GBenign
Select item 2234947	NM_173602.3(DIP2B):c.1970T>C (p.Phe657Ser)	DIP2B (F657S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722129	NM_173602.3(DIP2B):c.2007G>A (p.Pro669=)	DIP2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3082436	NM_173602.3(DIP2B):c.2041A>G (p.Ile681Val)	DIP2B (I681V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044174	NM_173602.3(DIP2B):c.2067C>A (p.Ala689=)	DIP2B	Single nucleotide variant (synonymous variant)	DIP2B-related condition	GLikely benign
Select item 736531	NM_173602.3(DIP2B):c.2259T>C (p.Cys753=)	DIP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082439	NM_173602.3(DIP2B):c.2315A>G (p.Asn772Ser)	DIP2B (N772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601143	NM_173602.3(DIP2B):c.2347G>A (p.Gly783Ser)	DIP2B (G783S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365637	NM_173602.3(DIP2B):c.2351C>T (p.Ser784Phe)	DIP2B (S784F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048869	NM_173602.3(DIP2B):c.2374A>G (p.Ile792Val)	DIP2B (I792V)	Single nucleotide variant (missense variant)	DIP2B-related condition	GLikely benign
Select item 2688933	NM_173602.3(DIP2B):c.2405C>T (p.Pro802Leu)	DIP2B (P802L)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440792	NM_173602.3(DIP2B):c.2485G>A (p.Val829Ile)	DIP2B (V829I)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 3054770	NM_173602.3(DIP2B):c.2553_2554del (p.Ser852fs)	DIP2B (S852fs)	Microsatellite (frameshift variant)	DIP2B-related condition	GUncertain significance
Select item 2627332	NM_173602.3(DIP2B):c.2643G>C (p.Val881=)	DIP2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 806886	NM_173602.3(DIP2B):c.2651C>T (p.Ala884Val)	DIP2B (A884V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273640	NM_173602.3(DIP2B):c.2660G>C (p.Ser887Thr)	DIP2B (S887T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725615	NM_173602.3(DIP2B):c.2682T>C (p.Tyr894=)	DIP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032427	NM_173602.3(DIP2B):c.2689G>C (p.Ala897Pro)	DIP2B (A897P)	Single nucleotide variant (missense variant)	DIP2B-related condition	GUncertain significance
Select item 2367838	NM_173602.3(DIP2B):c.2750C>T (p.Thr917Met)	DIP2B (T917M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285890	NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys)	DIP2B (Q919K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3055217	NM_173602.3(DIP2B):c.2846A>C (p.Gln949Pro)	DIP2B (Q949P)	Single nucleotide variant (missense variant)	DIP2B-related condition	GLikely benign
Select item 1255502	NM_173602.3(DIP2B):c.2946T>C (p.Asn982=)	DIP2B	Single nucleotide variant (synonymous variant)	Intellectual disability, FRA12A type	GBenign
Select item 2559432	NM_173602.3(DIP2B):c.2960A>G (p.Lys987Arg)	DIP2B (K987R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982021	NM_173602.3(DIP2B):c.2962-2_2962-1del	DIP2B	Deletion (splice acceptor variant)	Intellectual disability, FRA12A type	GPathogenic
Select item 2269525	NM_173602.3(DIP2B):c.2962C>T (p.His988Tyr)	DIP2B (H988Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297707	NM_173602.3(DIP2B):c.2974G>A (p.Ala992Thr)	DIP2B (A992T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629597	NM_173602.3(DIP2B):c.3025dup (p.Met1009fs)	DIP2B (M1009fs)	Duplication (frameshift variant)	DIP2B-related condition	GUncertain significance
Select item 2635049	NM_173602.3(DIP2B):c.3047C>A (p.Thr1016Asn)	DIP2B (T1016N)	Single nucleotide variant (missense variant)	DIP2B-related condition	GUncertain significance
Select item 3082441	NM_173602.3(DIP2B):c.3181G>A (p.Ala1061Thr)	DIP2B (A1061T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082442	NM_173602.3(DIP2B):c.3212G>C (p.Cys1071Ser)	DIP2B (C1071S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277800	NM_173602.3(DIP2B):c.3226G>A (p.Val1076Ile)	DIP2B (V1076I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280234	NM_173602.3(DIP2B):c.3238C>T (p.His1080Tyr)	DIP2B (H1080Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440794	NM_173602.3(DIP2B):c.3275G>A (p.Arg1092Gln)	DIP2B (R1092Q)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 3082443	NM_173602.3(DIP2B):c.3302C>G (p.Ala1101Gly)	DIP2B (A1101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629833	NM_173602.3(DIP2B):c.3302C>A (p.Ala1101Asp)	DIP2B (A1101D)	Single nucleotide variant (missense variant)	DIP2B-related condition	GUncertain significance
Select item 1691872	NM_173602.3(DIP2B):c.3346C>T (p.Arg1116Ter)	DIP2B (R1116*)	Single nucleotide variant (nonsense)	Generalized non-motor (absence) seizure	GUncertain significance
Select item 2470273	NM_173602.3(DIP2B):c.3385A>G (p.Thr1129Ala)	DIP2B (T1129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486598	NM_173602.3(DIP2B):c.3388A>G (p.Ile1130Val)	DIP2B (I1130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734972	NM_173602.3(DIP2B):c.3401-8C>T	DIP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735647	NM_173602.3(DIP2B):c.3448C>T (p.Pro1150Ser)	DIP2B (P1150S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3082444	NM_173602.3(DIP2B):c.3478G>A (p.Val1160Ile)	DIP2B (V1160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633697	NM_173602.3(DIP2B):c.3622G>T (p.Ala1208Ser)	DIP2B (A1208S)	Single nucleotide variant (missense variant)	DIP2B-related condition	GUncertain significance
Select item 2248447	NM_173602.3(DIP2B):c.3646T>C (p.Tyr1216His)	DIP2B (Y1216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531392	NM_173602.3(DIP2B):c.3820A>G (p.Ile1274Val)	DIP2B (I1274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784300	NM_173602.3(DIP2B):c.3864G>A (p.Glu1288=)	DIP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign

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