9401[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 660697	NC_000008.10:g.(?_145736804)_(145738531_?)dup	RECQL4	Duplication	Baller-Gerold syndrome	GUncertain significance
Select item 3029450	NM_004260.4(RECQL4):c.*9C>G	RECQL4	Single nucleotide variant (3 prime UTR variant +1 more)	RECQL4-related disorder	GLikely benign
Select item 2744175	NM_004260.4(RECQL4):c.3624C>G (p.Arg1208=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 695611	NM_004260.4(RECQL4):c.3624C>T (p.Arg1208=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 459495	NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 568101	NM_004260.4(RECQL4):c.3623G>A (p.Arg1208His)	RECQL4 (R1208H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 851593	NM_004260.4(RECQL4):c.3622C>G (p.Arg1208Gly)	RECQL4 (R1208G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 239771	NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys)	RECQL4 (R1208C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1117492	NM_004260.4(RECQL4):c.3621C>T (p.Ala1207=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 640422	NM_004260.4(RECQL4):c.3618G>A (p.Val1206=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GUncertain significance
Select item 3152842	NM_004260.4(RECQL4):c.3616G>C (p.Val1206Leu)	RECQL4 (V1174L +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1470728	NM_004260.4(RECQL4):c.3616G>A (p.Val1206Met)	RECQL4 (V1206M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1412983	NM_004260.4(RECQL4):c.3615G>C (p.Gln1205His)	RECQL4 (Q1205H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 744230	NM_004260.4(RECQL4):c.3615G>A (p.Gln1205=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 857300	NM_004260.4(RECQL4):c.3613C>T (p.Gln1205Ter)	RECQL4 (Q1205*)	Single nucleotide variant (nonsense)	Baller-Gerold syndrome	GUncertain significance
Select item 1444609	NM_004260.4(RECQL4):c.3611T>A (p.Leu1204Gln)	RECQL4 (L1204Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 459494	NM_004260.4(RECQL4):c.3609_3611del (p.Leu1204del)	RECQL4 (L1204del)	Deletion (inframe_deletion)	Baller-Gerold syndrome	GUncertain significance
Select item 2160344	NM_004260.4(RECQL4):c.3610C>T (p.Leu1204=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 1115270	NM_004260.4(RECQL4):c.3609C>A (p.Leu1203=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 239770	NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=)	RECQL4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 2819510	NM_004260.4(RECQL4):c.3607C>T (p.Leu1203Phe)	RECQL4 (L1137F +17 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2734195	NM_004260.4(RECQL4):c.3606G>A (p.Glu1202=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 1039286	NM_004260.4(RECQL4):c.3606G>T (p.Glu1202Asp)	RECQL4 (E1202D)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 656854	NM_004260.4(RECQL4):c.3606G>C (p.Glu1202Asp)	RECQL4 (E1202D)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1027272	NM_004260.4(RECQL4):c.3604G>A (p.Glu1202Lys)	RECQL4 (E1202K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 528927	NM_004260.4(RECQL4):c.3602A>G (p.Glu1201Gly)	RECQL4 (E1201G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 2885745	NM_004260.4(RECQL4):c.3601del (p.Glu1201fs)	RECQL4 (E1103fs +17 more)	Deletion (frameshift variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 1634825	NM_004260.4(RECQL4):c.3600G>C (p.Thr1200=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 94895	NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +2 more	GConflicting classifications of pathogenicity
Select item 56410	NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs)	RECQL4 (T1200fs)	Deletion (frameshift variant)	Rapadilino syndrome	GLikely pathogenic
Select item 666107	NM_004260.4(RECQL4):c.3599C>T (p.Thr1200Met)	RECQL4 (T1200M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 735935	NM_004260.4(RECQL4):c.3597C>T (p.Ala1199=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 657050	NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del)	RECQL4	Deletion (inframe_deletion)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 934710	NM_004260.4(RECQL4):c.3595G>A (p.Ala1199Thr)	RECQL4 (A1199T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 2135283	NM_004260.4(RECQL4):c.3594G>T (p.Leu1198=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 239769	NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +2 more	GBenign/Likely benign
Select item 2084679	NM_004260.4(RECQL4):c.3593T>C (p.Leu1198Pro)	RECQL4 (L1132P +17 more)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1578625	NM_004260.4(RECQL4):c.3591C>T (p.Gly1197=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 655840	NM_004260.4(RECQL4):c.3590G>A (p.Gly1197Asp)	RECQL4 (G1197D)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 950339	NM_004260.4(RECQL4):c.3589G>T (p.Gly1197Cys)	RECQL4 (G1197C)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 569344	NM_004260.4(RECQL4):c.3589G>A (p.Gly1197Ser)	RECQL4 (G1197S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1107085	NM_004260.4(RECQL4):c.3588G>C (p.Val1196=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 1079854	NM_004260.4(RECQL4):c.3585G>C (p.Leu1195=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 792769	NM_004260.4(RECQL4):c.3585G>T (p.Leu1195=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 574686	NM_004260.4(RECQL4):c.3585G>A (p.Leu1195=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 1634239	NM_004260.4(RECQL4):c.3583C>T (p.Leu1195=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 1346255	NM_004260.4(RECQL4):c.3578_3583del (p.His1193_Ala1194del)	RECQL4	Deletion (inframe_deletion)	Baller-Gerold syndrome	GUncertain significance
Select item 954203	NM_004260.4(RECQL4):c.3583C>G (p.Leu1195Val)	RECQL4 (L1195V)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1122105	NM_004260.4(RECQL4):c.3582C>G (p.Ala1194=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 239768	NM_004260.4(RECQL4):c.3582C>T (p.Ala1194=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 2104614	NM_004260.4(RECQL4):c.3581C>A (p.Ala1194Asp)	RECQL4 (A1077D +17 more)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1042606	NM_004260.4(RECQL4):c.3580G>T (p.Ala1194Ser)	RECQL4 (A1194S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 406954	NM_004260.4(RECQL4):c.3580G>A (p.Ala1194Thr)	RECQL4 (A1194T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2761102	NM_004260.4(RECQL4):c.3579T>C (p.His1193=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 583117	NM_004260.4(RECQL4):c.3578A>G (p.His1193Arg)	RECQL4 (H1193R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1000413	NM_004260.4(RECQL4):c.3576C>G (p.Phe1192Leu)	RECQL4 (F1192L)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 765237	NM_004260.4(RECQL4):c.3576C>T (p.Phe1192=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 2866760	NM_004260.4(RECQL4):c.3575T>G (p.Phe1192Cys)	RECQL4 (F1149C +17 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 1388570	NM_004260.4(RECQL4):c.3573C>G (p.Ser1191Arg)	RECQL4 (S1191R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 239767	NM_004260.4(RECQL4):c.3573C>T (p.Ser1191=)	RECQL4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2820099	NM_004260.4(RECQL4):c.3571A>C (p.Ser1191Arg)	RECQL4 (S1125R +17 more)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2201514	NM_004260.4(RECQL4):c.3569T>G (p.Leu1190Arg)	RECQL4 (L1146R +17 more)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 459492	NM_004260.4(RECQL4):c.3569T>C (p.Leu1190Pro)	RECQL4 (L1190P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 2855402	NM_004260.4(RECQL4):c.3568C>T (p.Leu1190=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	Baller-Gerold syndrome	GLikely benign
Select item 3032220	NM_004260.4(RECQL4):c.3566A>G (p.His1189Arg)	RECQL4 (H1072R +17 more)	Single nucleotide variant (missense variant +1 more)	RECQL4-related disorder	GUncertain significance
Select item 2092437	NM_004260.4(RECQL4):c.3565C>G (p.His1189Asp)	RECQL4 (H1146D +17 more)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 836783	NM_004260.4(RECQL4):c.3565C>T (p.His1189Tyr)	RECQL4 (H1189Y)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 459491	NM_004260.4(RECQL4):c.3563T>C (p.Leu1188Pro)	RECQL4 (L1188P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 2085435	NM_004260.4(RECQL4):c.3562C>G (p.Leu1188Val)	RECQL4 (L1071V +17 more)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 784860	NM_004260.4(RECQL4):c.3562C>T (p.Leu1188=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 2581064	NM_004260.4(RECQL4):c.3561C>G (p.Tyr1187Ter)	RECQL4 (Y1070* +17 more)	Single nucleotide variant (nonsense +1 more)	Rapadilino syndrome	GLikely pathogenic
Select item 757105	NM_004260.4(RECQL4):c.3561C>T (p.Tyr1187=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GLikely benign
Select item 1026767	NM_004260.4(RECQL4):c.3560A>C (p.Tyr1187Ser)	RECQL4 (Y1187S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance

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