23067[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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 2244252	NM_019034.3(RHOF):c.203C>T (p.Thr68Ile)	RHOF, SETD1B (T68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328803	NM_019034.3(RHOF):c.198G>T (p.Glu66Asp)	RHOF, SETD1B (E66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154078	NM_019034.3(RHOF):c.185T>C (p.Val62Ala)	RHOF, SETD1B (V62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455213	NM_019034.3(RHOF):c.106C>T (p.Leu36Phe)	RHOF, SETD1B (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
Select item 3053007	NM_001353345.2(SETD1B):c.-6A>G	SETD1B	Single nucleotide variant (5 prime UTR variant)	SETD1B-related disorder	GLikely benign
Select item 2236999	NM_001353345.2(SETD1B):c.22dup (p.His8fs)	SETD1B (H8fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic OLikely oncogenic
Select item 2689949	NM_001353345.2(SETD1B):c.17C>G (p.Pro6Arg)	SETD1B (P6R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1698972	NM_001353345.2(SETD1B):c.20C>T (p.Pro7Leu)	SETD1B (P7L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2643415	NM_001353345.2(SETD1B):c.23A>C (p.His8Pro)	SETD1B (H8P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2637318	NM_001353345.2(SETD1B):c.24C>G (p.His8Gln)	SETD1B (H8Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2352933	NM_001353345.2(SETD1B):c.33C>G (p.His11Gln)	SETD1B (H11Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 2438172	NM_001353345.2(SETD1B):c.62C>A (p.Ser21Ter)	SETD1B (S21*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1727208	NM_001353345.2(SETD1B):c.89G>A (p.Arg30Lys)	SETD1B (R30K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2266342	NM_001353345.2(SETD1B):c.105G>A (p.Met35Ile)	SETD1B (M35I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317713	NM_001353345.2(SETD1B):c.130C>T (p.His44Tyr)	SETD1B (H44Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701216	NM_001353345.2(SETD1B):c.141_142del (p.Tyr48fs)	SETD1B (Y48fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2643416	NM_001353345.2(SETD1B):c.144C>T (p.Tyr48=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675518	NM_001353345.2(SETD1B):c.175-6C>T	SETD1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1709334	NM_001353345.2(SETD1B):c.185A>G (p.Asn62Ser)	SETD1B (N62S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1992426	NM_001353345.2(SETD1B):c.214del (p.Arg72fs)	SETD1B (R72fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2643417	NM_001353345.2(SETD1B):c.225G>A (p.Gly75=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1320973	NM_001353345.2(SETD1B):c.256_257delinsAA (p.Ser86Lys)	SETD1B (S86K)	Indel (missense variant)	not provided	GUncertain significance
Select item 2435853	NM_001353345.2(SETD1B):c.273+2T>C	SETD1B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2498278	NM_001353345.2(SETD1B):c.284_286delinsA (p.Phe95_Tyr96delinsTer)	SETD1B	Indel (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1679142	NM_001353345.2(SETD1B):c.293_294insAACGTGGG (p.Pro99fs)	SETD1B (P99fs)	Insertion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2643418	NM_001353345.2(SETD1B):c.306G>A (p.Pro102=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515603	NM_001353345.2(SETD1B):c.308A>C (p.Lys103Thr)	SETD1B (K103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699714	NM_001353345.2(SETD1B):c.332A>G (p.Asn111Ser)	SETD1B (N111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498279	NM_001353345.2(SETD1B):c.337_363inv (p.Asn113_Asp121delinsValProGlnGluValPheThrAspVal)	SETD1B	Inversion (missense variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1064508	NM_001353345.2(SETD1B):c.386T>G (p.Val129Gly)	SETD1B (V129G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 3037185	NM_001353345.2(SETD1B):c.408C>T (p.Tyr136=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 1250216	NM_001353345.2(SETD1B):c.438C>T (p.Ile146=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1708376	NM_001353345.2(SETD1B):c.480_481insT (p.Val161fs)	SETD1B (V161fs)	Insertion (frameshift variant)	See cases	GPathogenic
Select item 1805554	NM_001353345.2(SETD1B):c.489C>G (p.His163Gln)	SETD1B (H163Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1329008	NM_001353345.2(SETD1B):c.544+2T>C	SETD1B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2555519	NM_001353345.2(SETD1B):c.587G>A (p.Arg196Gln)	SETD1B (R196Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801351	NM_001353345.2(SETD1B):c.598dup (p.Gln200fs)	SETD1B (Q200fs)	Duplication (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1802554	NM_001353345.2(SETD1B):c.598del (p.Gln200fs)	SETD1B (Q200fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2643419	NM_001353345.2(SETD1B):c.597C>A (p.Pro199=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050587	NM_001353345.2(SETD1B):c.624C>T (p.Asp208=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GBenign
Select item 3051972	NM_001353345.2(SETD1B):c.637A>G (p.Ile213Val)	SETD1B (I213V)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 3317710	NM_001353345.2(SETD1B):c.686A>G (p.Asp229Gly)	SETD1B (D229G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554491	NM_001353345.2(SETD1B):c.707G>A (p.Cys236Tyr)	SETD1B (C236Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711354	NM_001353345.2(SETD1B):c.725C>G (p.Ser242Cys)	SETD1B (S242C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1321010	NM_001353345.2(SETD1B):c.731C>A (p.Thr244Asn)	SETD1B (T244N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303157	NM_001353345.2(SETD1B):c.760C>A (p.Gln254Lys)	SETD1B (Q254K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343743	NM_001353345.2(SETD1B):c.770C>T (p.Ala257Val)	SETD1B (A257V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303158	NM_001353345.2(SETD1B):c.773del (p.Tyr258fs)	SETD1B (Y258fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3257979	NM_001353345.2(SETD1B):c.890C>A (p.Ser297Ter)	SETD1B (S297*)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain significance
Select item 1722825	NM_001353345.2(SETD1B):c.902G>A (p.Ser301Asn)	SETD1B (S301N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635108	NM_001353345.2(SETD1B):c.919A>G (p.Thr307Ala)	SETD1B (T307A)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2554956	NM_001353345.2(SETD1B):c.925A>C (p.Lys309Gln)	SETD1B (K309Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435852	NM_001353345.2(SETD1B):c.931C>T (p.Arg311Trp)	SETD1B (R311W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2631193	NM_001353345.2(SETD1B):c.932G>A (p.Arg311Gln)	SETD1B (R311Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 1013365	NM_001353345.2(SETD1B):c.955_958dup (p.Ala320fs)	SETD1B (A320fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3160628	NM_001353345.2(SETD1B):c.959C>G (p.Ala320Gly)	SETD1B (A320G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643420	NM_001353345.2(SETD1B):c.960C>A (p.Ala320=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041623	NM_001353345.2(SETD1B):c.975C>T (p.His325=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 2662812	NM_001353345.2(SETD1B):c.976G>A (p.Glu326Lys)	SETD1B (E326K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3160629	NM_001353345.2(SETD1B):c.994A>G (p.Asn332Asp)	SETD1B (N332D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435847	NM_001353345.2(SETD1B):c.1004C>T (p.Ala335Val)	SETD1B (A335V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +1 more	GConflicting classifications of pathogenicity
Select item 2643421	NM_001353345.2(SETD1B):c.1013C>T (p.Ala338Val)	SETD1B (A338V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3160602	NM_001353345.2(SETD1B):c.1015G>C (p.Val339Leu)	SETD1B (V339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461590	NM_001353345.2(SETD1B):c.1021G>A (p.Gly341Arg)	SETD1B (G341R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2643422	NM_001353345.2(SETD1B):c.1023G>A (p.Gly341=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703503	NM_001353345.2(SETD1B):c.1044_1056del (p.Ser349fs)	SETD1B (S349fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1694682	NM_001353345.2(SETD1B):c.1058C>T (p.Pro353Leu)	SETD1B (P353L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1678677	NM_001353345.2(SETD1B):c.1067C>T (p.Ala356Val)	SETD1B (A356V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643423	NM_001353345.2(SETD1B):c.1071C>T (p.Val357=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2409364	NM_001353345.2(SETD1B):c.1072G>A (p.Gly358Ser)	SETD1B (G358S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1705692	NM_001353345.2(SETD1B):c.1085del (p.Gly362fs)	SETD1B (G362fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2643424	NM_001353345.2(SETD1B):c.1092C>T (p.Ser364=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2368233	NM_001353345.2(SETD1B):c.1094G>T (p.Gly365Val)	SETD1B (G365V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643425	NM_001353345.2(SETD1B):c.1100C>T (p.Pro367Leu)	SETD1B (P367L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3038945	NM_001353345.2(SETD1B):c.1113A>G (p.Gln371=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 2643426	NM_001353345.2(SETD1B):c.1128C>T (p.Ala376=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3363459	NM_001353345.2(SETD1B):c.1130C>T (p.Thr377Ile)	SETD1B (T377I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643427	NM_001353345.2(SETD1B):c.1152C>T (p.Pro384=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494104	NM_001353345.2(SETD1B):c.1160C>T (p.Ala387Val)	SETD1B (A387V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500709	NM_001353345.2(SETD1B):c.1196C>A (p.Pro399Gln)	SETD1B (P399Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2325760	NM_001353345.2(SETD1B):c.1199A>G (p.Tyr400Cys)	SETD1B (Y400C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317719	NM_001353345.2(SETD1B):c.1213G>A (p.Ala405Thr)	SETD1B (A405T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643428	NM_001353345.2(SETD1B):c.1232C>T (p.Pro411Leu)	SETD1B (P411L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3058804	NM_001353345.2(SETD1B):c.1245C>T (p.Thr415=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3026172	NM_001353345.2(SETD1B):c.1257T>G (p.Ala419=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498570	NM_001353345.2(SETD1B):c.1263G>A (p.Gly421=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2390874	NM_001353345.2(SETD1B):c.1264G>A (p.Ala422Thr)	SETD1B (A422T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2324401	NM_001353345.2(SETD1B):c.1281G>C (p.Glu427Asp)	SETD1B (E427D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387671	NM_001353345.2(SETD1B):c.1282T>C (p.Phe428Leu)	SETD1B (F428L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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