"GeneDx"[submitter] AND "KAT6B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 145836	GRCh38/hg38 10q22.2(chr10:74753051-74825845)x1	KAT6B, LOC110121382 +2 more	Copy number loss	See cases	GLikely benign
Select item 507335	NM_012330.4(KAT6B):c.-278C>T	KAT6B	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1237197	NM_012330.4(KAT6B):c.-258-101del	KAT6B	Deletion (intron variant)	not provided	GBenign
Select item 1712857	NM_012330.4(KAT6B):c.-2C>T	KAT6B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1314182	NM_012330.4(KAT6B):c.102T>G (p.His34Gln)	KAT6B (H34Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 561971	NM_012330.4(KAT6B):c.119A>G (p.His40Arg)	KAT6B (H40R)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1204057	NM_012330.4(KAT6B):c.147A>G (p.Glu49=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +2 more	GLikely benign
Select item 3252762	NM_012330.4(KAT6B):c.155A>C (p.Glu52Ala)	KAT6B (E52A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 265697	NM_012330.4(KAT6B):c.257del (p.Gly86fs)	KAT6B (G86fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 561960	NM_012330.4(KAT6B):c.282del (p.Ser95fs)	KAT6B (S95fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 300855	NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)	KAT6B (R103C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 393162	NM_012330.4(KAT6B):c.355G>C (p.Glu119Gln)	KAT6B (E119Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 300856	NM_012330.4(KAT6B):c.375C>T (p.Ser125=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1300459	NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile)	KAT6B (T142I)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3372164	NM_012330.4(KAT6B):c.449A>G (p.Gln150Arg)	KAT6B (Q150R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620483	NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter)	KAT6B (R153*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1198841	NM_012330.4(KAT6B):c.504C>T (p.Asp168=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2574430	NM_012330.4(KAT6B):c.541G>A (p.Gly181Ser)	KAT6B (G181S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505961	NM_012330.4(KAT6B):c.589C>G (p.Pro197Ala)	KAT6B (H17Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230451	NM_012330.4(KAT6B):c.621+40C>A	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187585	NM_012330.4(KAT6B):c.621+55G>A	KAT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561579	NM_012330.4(KAT6B):c.621+246C>T	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260326	NM_012330.4(KAT6B):c.621+299G>A	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561577	NM_012330.4(KAT6B):c.622-49C>A	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502613	NM_012330.4(KAT6B):c.640C>G (p.Pro214Ala)	KAT6B (F34L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257194	NM_012330.4(KAT6B):c.699A>G (p.Glu233=)	KAT6B (N54S)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 422921	NM_012330.4(KAT6B):c.708_709del (p.Ala238fs)	KAT6B (A238fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1188497	NM_012330.4(KAT6B):c.717T>C (p.Asp239=)	KAT6B (I60T)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1169422	NM_012330.4(KAT6B):c.730+7T>A	KAT6B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 561580	NM_012330.4(KAT6B):c.730+204T>C	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561581	NM_012330.4(KAT6B):c.730+245C>T	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338954	NM_012330.4(KAT6B):c.731-11del	KAT6B	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1254631	NM_012330.4(KAT6B):c.731-4A>G	KAT6B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1313741	NM_012330.4(KAT6B):c.748A>C (p.Lys250Gln)	KAT6B (K250Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2576868	NM_012330.4(KAT6B):c.782C>G (p.Ala261Gly)	KAT6B (A261G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 439843	NM_012330.4(KAT6B):c.782C>T (p.Ala261Val)	KAT6B (A261V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1306431	NM_012330.4(KAT6B):c.786A>T (p.Leu262Phe)	KAT6B (L262F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499387	NM_012330.4(KAT6B):c.794_795inv (p.Gln265Pro)	KAT6B (Q265P)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 507759	NM_012330.4(KAT6B):c.801C>T (p.Ile267=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1699782	NM_012330.4(KAT6B):c.802G>A (p.Glu268Lys)	KAT6B (E268K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2444757	NM_012330.4(KAT6B):c.830T>A (p.Val277Asp)	KAT6B (V277D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 507503	NM_012330.4(KAT6B):c.840A>G (p.Arg280=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 451759	NM_012330.4(KAT6B):c.846+2dup	KAT6B	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 561578	NM_012330.4(KAT6B):c.846+99C>T	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275983	NM_012330.4(KAT6B):c.847-47T>C	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575011	NM_012330.4(KAT6B):c.907C>T (p.Pro303Ser)	KAT6B (P303S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 561615	NM_012330.4(KAT6B):c.929-232C>T	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212956	NM_012330.4(KAT6B):c.929-151A>C	KAT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 300858	NM_012330.4(KAT6B):c.929-12A>G	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +3 more	GBenign
Select item 2991609	NM_012330.4(KAT6B):c.930G>T (p.Gly310=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 561705	NM_012330.4(KAT6B):c.933G>A (p.Met311Ile)	KAT6B (M311I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340991	NM_012330.4(KAT6B):c.1006C>T (p.Arg336Ter)	KAT6B (R336*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 512421	NM_012330.4(KAT6B):c.1011A>T (p.Arg337=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1242956	NM_012330.4(KAT6B):c.1025T>C (p.Ile342Thr)	KAT6B (I342T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GBenign/Likely benign
Select item 1219116	NM_012330.4(KAT6B):c.1061+1G>A	KAT6B	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1203834	NM_012330.4(KAT6B):c.1062-189_1062-188dup	KAT6B	Duplication (intron variant)	not provided	GLikely benign
Select item 2443623	NM_012330.4(KAT6B):c.1067T>C (p.Val356Ala)	KAT6B (V356A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708620	NM_012330.4(KAT6B):c.1160G>C (p.Gly387Ala)	KAT6B (G387A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 300861	NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys)	KAT6B (S423C)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GBenign/Likely benign
Select item 1321577	NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del)	KAT6B	Deletion (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 2499763	NM_012330.4(KAT6B):c.1365T>G (p.Ile455Met)	KAT6B (I455M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1320473	NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr)	KAT6B (I456T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1313303	NM_012330.4(KAT6B):c.1400A>C (p.Lys467Thr)	KAT6B (K467T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1343050	NM_012330.4(KAT6B):c.1413A>T (p.Lys471Asn)	KAT6B (K471N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 432719	NM_012330.4(KAT6B):c.1454A>G (p.Gln485Arg)	KAT6B (Q485R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1261269	NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser)	KAT6B (P490S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GBenign/Likely benign
Select item 1309073	NM_012330.4(KAT6B):c.1504G>A (p.Gly502Ser)	KAT6B (G502S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 300864	NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg)	KAT6B (S504R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1703378	NM_012330.4(KAT6B):c.1627C>G (p.Leu543Val)	KAT6B (L543V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300579	NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala)	KAT6B (T552A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 300867	NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg)	KAT6B (G555R)	Single nucleotide variant (missense variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GBenign/Likely benign
Select item 561722	NM_012330.4(KAT6B):c.1685A>G (p.His562Arg)	KAT6B (H562R)	Single nucleotide variant (missense variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GUncertain significance
Select item 1279366	NM_012330.4(KAT6B):c.1689G>A (p.Pro563=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2504412	NM_012330.4(KAT6B):c.1691G>C (p.Ser564Thr)	KAT6B (S564T)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1326206	NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val)	KAT6B (A585V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 451543	NM_012330.4(KAT6B):c.1770_1773del (p.Arg591fs)	KAT6B (R591fs)	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 513307	NM_012330.4(KAT6B):c.1782A>G (p.Arg594=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +2 more	GLikely benign
Select item 1305170	NM_012330.4(KAT6B):c.1783A>T (p.Ser595Cys)	KAT6B (S595C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 260233	NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr)	KAT6B (H600Y)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1304364	NM_012330.4(KAT6B):c.1819G>A (p.Gly607Arg)	KAT6B (G607R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321527	NM_012330.4(KAT6B):c.1833_1835del (p.Ser612del)	KAT6B (S612del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1804339	NM_012330.4(KAT6B):c.1855C>T (p.His619Tyr)	KAT6B (H619Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 692078	NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)	KAT6B (R622*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2572882	NM_012330.4(KAT6B):c.1870A>G (p.Thr624Ala)	KAT6B (T624A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326041	NM_012330.4(KAT6B):c.1993+40G>A	KAT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201734	NM_012330.4(KAT6B):c.1993+194T>G	KAT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210977	NM_012330.4(KAT6B):c.1994-20C>T	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 430339	NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg)	KAT6B (Q700R +3 more)	Single nucleotide variant (missense variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GConflicting classifications of pathogenicity
Select item 2503291	NM_012330.4(KAT6B):c.2107T>C (p.Ser703Pro)	KAT6B (S348P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1195685	NM_012330.4(KAT6B):c.2116-187dup	KAT6B	Duplication (intron variant)	not provided	GLikely benign
Select item 1166107	NM_012330.4(KAT6B):c.2231+9A>G	KAT6B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1186961	NM_012330.4(KAT6B):c.2231+310dup	KAT6B	Duplication (intron variant)	not provided	GLikely benign
Select item 2577776	NM_012330.4(KAT6B):c.2282A>C (p.Lys761Thr)	KAT6B (K120T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577725	NM_012330.4(KAT6B):c.2284A>C (p.Asn762His)	KAT6B (N121H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2444621	NM_012330.4(KAT6B):c.2347C>T (p.Arg783Ter)	KAT6B (R142* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 300871	NM_012330.4(KAT6B):c.2374-10T>C	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 260235	NM_012330.4(KAT6B):c.2448G>A (p.Thr816=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +2 more	GLikely benign
Select item 2579871	NM_012330.4(KAT6B):c.2468C>T (p.Pro823Leu)	KAT6B (P468L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300649	NM_012330.4(KAT6B):c.2536-26A>G	KAT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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