GATAD2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 148388	GRCh38/hg38 1q21.3(chr1:153752331-153897529)x1	GATAD2B, INTS3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 60011	GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1	C1orf43, CFAP141 +35 more	Copy number loss	See cases	GPathogenic
Select item 2639355	NC_000001.11:g.153796535C>T	GATAD2B	Single nucleotide variant	not provided	GLikely benign
Select item 2639356	NC_000001.11:g.153799559G>A	GATAD2B	Single nucleotide variant	not provided	GBenign
Select item 2639357	NC_000001.11:g.153799671C>T	GATAD2B	Single nucleotide variant	not provided	GLikely benign
Select item 2639358	NC_000001.11:g.153799672G>A	GATAD2B	Single nucleotide variant	not provided	GLikely benign
Select item 2639359	NC_000001.11:g.153799805G>T	GATAD2B	Single nucleotide variant	not provided	GLikely benign
Select item 2498423	NC_000001.11:g.153799871G>T	GATAD2B	Single nucleotide variant	not provided	GLikely benign
Select item 2498424	NC_000001.11:g.153799872T>C	GATAD2B	Single nucleotide variant	not provided	GLikely benign
Select item 2639360	NC_000001.11:g.153799990G>A	GATAD2B	Single nucleotide variant	not provided	GBenign
Select item 2639361	NC_000001.11:g.153800250G>A	GATAD2B	Single nucleotide variant	not provided	GLikely benign
Select item 1029765	NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln)	GATAD2B	Single nucleotide variant (stop lost)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 2106662	NM_020699.4(GATAD2B):c.1779A>G (p.Lys593=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1555274	NM_020699.4(GATAD2B):c.1767C>T (p.Ile589=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1345202	NM_020699.4(GATAD2B):c.1765A>G (p.Ile589Val)	GATAD2B (I589V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709791	NM_020699.4(GATAD2B):c.1763C>G (p.Ser588Cys)	GATAD2B (S588C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623704	NM_020699.4(GATAD2B):c.1760del (p.Gln587fs)	GATAD2B (Q587fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1933860	NM_020699.4(GATAD2B):c.1758G>A (p.Ser586=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746874	NM_020699.4(GATAD2B):c.1757C>T (p.Ser586Leu)	GATAD2B (S586L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211067	NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val)	GATAD2B (I585V)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +3 more	GConflicting classifications of pathogenicity
Select item 435286	NM_020699.4(GATAD2B):c.1748G>A (p.Arg583Gln)	GATAD2B (R583Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1649917	NM_020699.4(GATAD2B):c.1729T>C (p.Leu577=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314907	NM_020699.4(GATAD2B):c.1711C>T (p.Arg571Ter)	GATAD2B (R571*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2801997	NM_020699.4(GATAD2B):c.1702T>C (p.Leu568=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780748	NM_020699.4(GATAD2B):c.1702T>G (p.Leu568Val)	GATAD2B (L568V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713667	NM_020699.4(GATAD2B):c.1686A>G (p.Gly562=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2860861	NM_020699.4(GATAD2B):c.1681G>A (p.Gly561Arg)	GATAD2B (G561R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713589	NM_020699.4(GATAD2B):c.1680C>T (p.Ile560=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632908	NM_020699.4(GATAD2B):c.1677C>T (p.Gly559=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720770	NM_020699.4(GATAD2B):c.1669A>C (p.Asn557His)	GATAD2B (N557H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254028	NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly)	GATAD2B (A554G)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1653504	NM_020699.4(GATAD2B):c.1649-4C>A	GATAD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192866	NM_020699.4(GATAD2B):c.1649-52A>G	GATAD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287536	NM_020699.4(GATAD2B):c.1649-291G>A	GATAD2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242435	NM_020699.4(GATAD2B):c.1648+178C>G	GATAD2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205436	NM_020699.4(GATAD2B):c.1648+113G>A	GATAD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695158	NM_020699.4(GATAD2B):c.1648+6_1648+8del	GATAD2B	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2129073	NM_020699.4(GATAD2B):c.1648+1G>A	GATAD2B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 873480	NM_020699.4(GATAD2B):c.1640G>C (p.Gly547Ala)	GATAD2B (G547A)	Single nucleotide variant (missense variant)	GATAD2B-related intellectual disability syndrome	GUncertain significance
Select item 1902422	NM_020699.4(GATAD2B):c.1635C>T (p.Leu545=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972483	NM_020699.4(GATAD2B):c.1624C>T (p.Pro542Ser)	GATAD2B (P542S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721535	NM_020699.4(GATAD2B):c.1621G>C (p.Val541Leu)	GATAD2B (V541L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701774	NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu)	GATAD2B (V541L)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GUncertain significance
Select item 1466677	NM_020699.4(GATAD2B):c.1621G>A (p.Val541Met)	GATAD2B (V541M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950624	NM_020699.4(GATAD2B):c.1617G>A (p.Leu539=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037206	NM_020699.4(GATAD2B):c.1614G>A (p.Gln538=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498425	NM_020699.4(GATAD2B):c.1613A>G (p.Gln538Arg)	GATAD2B (Q538R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836424	NM_020699.4(GATAD2B):c.1611C>A (p.Pro537=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944596	NM_020699.4(GATAD2B):c.1611C>G (p.Pro537=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053536	NM_020699.4(GATAD2B):c.1610C>A (p.Pro537His)	GATAD2B (P537H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462009	NM_020699.4(GATAD2B):c.1607C>T (p.Ala536Val)	GATAD2B (A536V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948924	NM_020699.4(GATAD2B):c.1606G>C (p.Ala536Pro)	GATAD2B (A536P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538957	NM_020699.4(GATAD2B):c.1605G>A (p.Gln535=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697066	NM_020699.4(GATAD2B):c.1600G>C (p.Ala534Pro)	GATAD2B (A534P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632134	NM_020699.4(GATAD2B):c.1599T>C (p.Phe533=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956936	NM_020699.4(GATAD2B):c.1596C>T (p.Asn532=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967473	NM_020699.4(GATAD2B):c.1594A>G (p.Asn532Asp)	GATAD2B (N532D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798820	NM_020699.4(GATAD2B):c.1594A>C (p.Asn532His)	GATAD2B (N532H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667951	NM_020699.4(GATAD2B):c.1581C>T (p.Arg527=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070802	NM_020699.4(GATAD2B):c.1570A>G (p.Thr524Ala)	GATAD2B (T524A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771619	NM_020699.4(GATAD2B):c.1567C>T (p.Pro523Ser)	GATAD2B (P523S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493286	NM_020699.4(GATAD2B):c.1564A>G (p.Ile522Val)	GATAD2B (I522V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095975	NM_020699.4(GATAD2B):c.1559G>A (p.Arg520His)	GATAD2B (R520H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991758	NM_020699.4(GATAD2B):c.1558C>T (p.Arg520Cys)	GATAD2B (R520C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545450	NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter)	GATAD2B (Q513*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 2849987	NM_020699.4(GATAD2B):c.1531-9del	GATAD2B	Deletion (intron variant)	not provided	GLikely benign
Select item 2099954	NM_020699.4(GATAD2B):c.1531-10A>T	GATAD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613939	NM_020699.4(GATAD2B):c.1531-11C>T	GATAD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128968	NM_020699.4(GATAD2B):c.1531-33_1531-13dup	GATAD2B	Duplication (intron variant)	not provided	GLikely benign
Select item 2011887	NM_020699.4(GATAD2B):c.1531-12del	GATAD2B	Deletion (intron variant)	not provided	GLikely benign
Select item 1614982	NM_020699.4(GATAD2B):c.1531-16C>T	GATAD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961011	NM_020699.4(GATAD2B):c.1531-20C>G	GATAD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259386	NM_020699.4(GATAD2B):c.1530+14T>C	GATAD2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2132858	NM_020699.4(GATAD2B):c.1530+4A>G	GATAD2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2742867	NM_020699.4(GATAD2B):c.1526G>C (p.Arg509Pro)	GATAD2B (R509P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481762	NM_020699.4(GATAD2B):c.1526G>A (p.Arg509Gln)	GATAD2B (R509Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957558	NM_020699.4(GATAD2B):c.1522C>G (p.Leu508Val)	GATAD2B (L508V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627111	NM_020699.4(GATAD2B):c.1521G>A (p.Thr507=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370130	NM_020699.4(GATAD2B):c.1520C>T (p.Thr507Met)	GATAD2B (T507M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723448	NM_020699.4(GATAD2B):c.1518T>G (p.His506Gln)	GATAD2B (H506Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2838507	NM_020699.4(GATAD2B):c.1504A>G (p.Ile502Val)	GATAD2B (I502V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663557	NM_020699.4(GATAD2B):c.1503C>T (p.Thr501=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720315	NM_020699.4(GATAD2B):c.1502C>G (p.Thr501Ser)	GATAD2B (T501S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788944	NM_020699.4(GATAD2B):c.1484G>A (p.Ser495Asn)	GATAD2B (S495N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574856	NM_020699.4(GATAD2B):c.1482C>T (p.Ser494=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910459	NM_020699.4(GATAD2B):c.1479G>A (p.Val493=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463942	NM_020699.4(GATAD2B):c.1475C>T (p.Ala492Val)	GATAD2B (A492V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211066	NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val)	GATAD2B (A490V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1195383	NM_020699.4(GATAD2B):c.1467G>A (p.Thr489=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1622511	NM_020699.4(GATAD2B):c.1461C>T (p.Pro487=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533492	NM_020699.4(GATAD2B):c.1461C>G (p.Pro487=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529506	NM_020699.4(GATAD2B):c.1461C>A (p.Pro487=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435287	NM_020699.4(GATAD2B):c.1459C>T (p.Pro487Ser)	GATAD2B (P487S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1549593	NM_020699.4(GATAD2B):c.1458C>T (p.Ser486=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1195650	NM_020699.4(GATAD2B):c.1455C>T (p.Leu485=)	GATAD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1362260	NM_020699.4(GATAD2B):c.1447G>A (p.Ala483Thr)	GATAD2B (A483T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931138	NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His)	GATAD2B (Q482H)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 521258	NM_020699.4(GATAD2B):c.1444C>T (p.Gln482Ter)	GATAD2B (Q482*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 988718	NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)	GATAD2B (Q481*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic

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