12306[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 59174	GRCh38/hg38 2q36.3(chr2:229308268-229952405)x3	DNER, FBXO36 +7 more	Copy number gain	See cases	GPathogenic
Select item 152951	GRCh38/hg38 2q36.3(chr2:229648729-230055624)x1	DNER, FBXO36 +7 more	Copy number loss	See cases	GUncertain significance
Select item 1181222	NM_001348323.3(TRIP12):c.*2C>T	TRIP12	Single nucleotide variant (3 prime UTR variant)	TRIP12-related disorder +1 more	GBenign
Select item 975899	NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter)	TRIP12 (Q1717* +11 more)	Single nucleotide variant (nonsense)	Clark-Baraitser syndrome	GUncertain significance
Select item 986828	NM_001348323.3(TRIP12):c.6181C>T (p.Gln2061Ter)	TRIP12 (Q1716* +11 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2284606	NM_001348323.3(TRIP12):c.6164T>A (p.Ile2055Lys)	TRIP12 (I1710K +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058700	NM_001348323.3(TRIP12):c.6153A>T (p.Glu2051Asp)	TRIP12 (E1706D +11 more)	Single nucleotide variant (missense variant)	TRIP12-related disorder	GLikely benign
Select item 3031472	NM_001348323.3(TRIP12):c.6141G>C (p.Glu2047Asp)	TRIP12 (E1702D +11 more)	Single nucleotide variant (missense variant)	TRIP12-related disorder	GUncertain significance
Select item 3063986	NM_001348323.3(TRIP12):c.6134G>C (p.Ser2045Thr)	TRIP12 (S1700T +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627834	NM_001348323.3(TRIP12):c.6129T>G (p.Tyr2043Ter)	TRIP12 (Y1698* +11 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2582514	NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)	TRIP12 (Y1698fs +11 more)	Indel (frameshift variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 3045557	NM_001348323.3(TRIP12):c.6123G>A (p.Pro2041=)	TRIP12	Single nucleotide variant (synonymous variant)	TRIP12-related disorder	GLikely benign
Select item 984640	NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)	TRIP12 (P1696L +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 1709873	NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)	TRIP12 (Y1692* +11 more)	Duplication (nonsense)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 801905	NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala)	TRIP12 (T1985A +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1675843	NM_001348323.3(TRIP12):c.6032T>G (p.Leu2011Trp)	TRIP12 (L1666W +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2662454	NM_001348323.3(TRIP12):c.6016A>G (p.Ser2006Gly)	TRIP12 (S1661G +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296145	NM_001348323.3(TRIP12):c.6014G>A (p.Arg2005Gln)	TRIP12 (R1963Q +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506259	NM_001348323.3(TRIP12):c.6008-6A>G	TRIP12	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2617653	NM_001348323.3(TRIP12):c.6007G>A (p.Gly2003Arg)	TRIP12 (G1976R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312243	NM_001348323.3(TRIP12):c.5951A>T (p.Glu1984Val)	TRIP12 (E1639V +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325601	NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly)	TRIP12 (S1635G +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1310622	NM_001348323.3(TRIP12):c.5936G>A (p.Ser1979Asn)	TRIP12 (S1634N +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258023	NM_001348323.3(TRIP12):c.5905_5908delinsATATGGTATATTTACTT (p.Arg1969fs)	TRIP12 (R1894fs +11 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1711903	NM_001348323.3(TRIP12):c.5906G>T (p.Arg1969Leu)	TRIP12 (R1624L +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058770	NM_001348323.3(TRIP12):c.5904-3T>C	TRIP12	Single nucleotide variant (intron variant)	TRIP12-related disorder	GBenign
Select item 1244075	NM_001348323.3(TRIP12):c.5904-138_5904-137insATTTG	TRIP12	Insertion (intron variant)	not provided	GBenign
Select item 3236823	NM_001348323.3(TRIP12):c.5884C>T (p.His1962Tyr)	TRIP12 (H1617Y +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 2651972	NM_001348323.3(TRIP12):c.5841C>T (p.Asp1947=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702554	NM_001348323.3(TRIP12):c.5809-7C>A	TRIP12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288128	NM_001348323.3(TRIP12):c.5809-146A>T	TRIP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054645	NM_001348323.3(TRIP12):c.5802G>A (p.Pro1934=)	TRIP12	Single nucleotide variant (synonymous variant)	TRIP12-related disorder	GLikely benign
Select item 620003	NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)	TRIP12 (P1892L +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GConflicting classifications of pathogenicity
Select item 1302188	NM_001348323.3(TRIP12):c.5783A>G (p.His1928Arg)	TRIP12 (H1901R +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029136	NM_001348323.3(TRIP12):c.5769C>T (p.Val1923=)	TRIP12	Single nucleotide variant (synonymous variant)	TRIP12-related disorder	GLikely benign
Select item 775829	NM_001348323.3(TRIP12):c.5695-4G>T	TRIP12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2438549	NM_001348323.3(TRIP12):c.5675del (p.Asn1892fs)	TRIP12 (N1547fs +11 more)	Deletion (frameshift variant)	Clark-Baraitser syndrome	GPathogenic
Select item 1234309	NM_001348323.3(TRIP12):c.5529+161G>A	TRIP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1028708	NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs)	TRIP12 (A1476fs +11 more)	Duplication (frameshift variant)	Clark-Baraitser syndrome	GPathogenic
Select item 1992332	NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)	TRIP12 (P1744fs +11 more)	Indel (frameshift variant)	Clark-Baraitser syndrome	GPathogenic
Select item 2307603	NM_001348323.3(TRIP12):c.5449G>A (p.Asp1817Asn)	TRIP12 (D1743N +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031395	NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu)	TRIP12 (S1763L +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 2575539	NM_001348323.3(TRIP12):c.5410C>A (p.Gln1804Lys)	TRIP12 (Q1459K +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239469	NM_001348323.3(TRIP12):c.5407C>T (p.Arg1803Trp)	TRIP12 (R1458W +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651973	NM_001348323.3(TRIP12):c.5382C>A (p.Gly1794=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651974	NM_001348323.3(TRIP12):c.5376C>A (p.Pro1792=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1723406	NM_001348323.3(TRIP12):c.5365-14A>C	TRIP12	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1028707	NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val)	TRIP12 (M1728V +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 2541891	NM_001348323.3(TRIP12):c.5296G>A (p.Ala1766Thr)	TRIP12 (A1691T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334586	NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)	TRIP12 (L1409fs +11 more)	Indel (frameshift variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 3235991	NM_001348323.3(TRIP12):c.5231A>G (p.Tyr1744Cys)	TRIP12 (Y1399C +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1098392	NM_001348323.3(TRIP12):c.5215del (p.Gln1739fs)	TRIP12 (Q1394fs +11 more)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 150462	GRCh38/hg38 2q36.3(chr2:229778841-229969215)x3	FBXO36, LOC129389004 +4 more	Copy number gain	See cases	GLikely benign
Select item 3057437	NM_001348323.3(TRIP12):c.5209+10A>G	TRIP12	Single nucleotide variant (intron variant)	TRIP12-related disorder	GLikely benign
Select item 520615	NM_001348323.3(TRIP12):c.5191_5194del (p.Thr1731fs)	TRIP12 (T1697fs +11 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2580384	NM_001348323.3(TRIP12):c.5188G>A (p.Val1730Ile)	TRIP12 (V1385I +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066118	NM_001348323.3(TRIP12):c.5114C>T (p.Pro1705Leu)	TRIP12 (P1360L +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 2651975	NM_001348323.3(TRIP12):c.5106T>C (p.Gly1702=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699662	NM_001348323.3(TRIP12):c.5062C>T (p.Arg1688Trp)	TRIP12 (R1343W +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2222500	NM_001348323.3(TRIP12):c.5053G>A (p.Gly1685Ser)	TRIP12 (G1340S +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2626769	NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)	TRIP12 (A1332V +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 446138	NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln)	TRIP12 (R1628Q +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GPathogenic
Select item 1305011	NM_001348323.3(TRIP12):c.4997G>A (p.Arg1666His)	TRIP12 (R1321H +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3220900	NM_001348323.3(TRIP12):c.4996-12_4996-2del	TRIP12	Deletion (splice acceptor variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 424206	NM_001348323.3(TRIP12):c.4995+2T>C	TRIP12	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1194542	NM_001348323.3(TRIP12):c.4995del (p.Lys1665fs)	TRIP12 (K1320fs +11 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 801906	NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu)	TRIP12 (D1635E +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 1064567	NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn)	TRIP12 (T1298N +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 2635848	NM_001348323.3(TRIP12):c.4922T>C (p.Leu1641Pro)	TRIP12 (L1296P +11 more)	Single nucleotide variant (missense variant)	TRIP12-related disorder	GUncertain significance
Select item 3032735	NM_001348323.3(TRIP12):c.4914A>G (p.Gln1638=)	TRIP12	Single nucleotide variant (synonymous variant)	TRIP12-related disorder	GLikely benign
Select item 1064857	NM_001348323.3(TRIP12):c.4909A>G (p.Met1637Val)	TRIP12 (M1292V +11 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1098288	NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)	TRIP12 (R1290Q +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 812759	NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter)	TRIP12 (R1561* +11 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1343892	NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp)	TRIP12 (R1277W +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2651976	NM_001348323.3(TRIP12):c.4863C>T (p.Thr1621=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024275	NM_001348323.3(TRIP12):c.4861A>C (p.Thr1621Pro)	TRIP12 (T1276P +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1227399	NM_001348323.3(TRIP12):c.4839-168del	TRIP12	Deletion (intron variant)	not provided	GBenign
Select item 998078	NM_001348323.3(TRIP12):c.4838+2T>G	TRIP12	Single nucleotide variant (splice donor variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 2505966	NM_001348323.3(TRIP12):c.4833A>T (p.Lys1611Asn)	TRIP12 (K1266N +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571127	NM_001348323.3(TRIP12):c.4812A>G (p.Thr1604=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1806227	NM_001348323.3(TRIP12):c.4789A>G (p.Ile1597Val)	TRIP12 (I1252V +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 2504827	NM_001348323.3(TRIP12):c.4787T>A (p.Val1596Glu)	TRIP12 (V1251E +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539533	NM_001348323.3(TRIP12):c.4734T>G (p.Phe1578Leu)	TRIP12 (F1503L +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698105	NM_001348323.3(TRIP12):c.4726A>G (p.Ser1576Gly)	TRIP12 (S1231G +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285508	NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)	TRIP12 (S1231fs +11 more)	Deletion (frameshift variant)	Clark-Baraitser syndrome	GPathogenic
Select item 1295003	NM_001348323.3(TRIP12):c.4696-25dup	TRIP12	Duplication (intron variant)	not provided	GBenign
Select item 1290159	NM_001348323.3(TRIP12):c.4696-14del	TRIP12	Deletion (intron variant)	not provided	GBenign
Select item 1270585	NM_001348323.3(TRIP12):c.4696-87A>G	TRIP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 809184	NM_001348323.3(TRIP12):c.4695+5G>A	TRIP12	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic

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