23522[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
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 300851	NM_012330.4(KAT6B):c.-424_-419dup	KAT6B, LOC130004121	Duplication (5 prime UTR variant +1 more)	KAT6B-Related Spectrum Disorders	GUncertain significance
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 1708059	NM_012330.4(KAT6B):c.1A>G (p.Met1Val)	KAT6B (M1V)	Single nucleotide variant (missense variant +2 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GLikely pathogenic
Select item 1964937	NM_012330.4(KAT6B):c.27T>C (p.Tyr9=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2990436	NM_012330.4(KAT6B):c.48T>C (p.Ala16=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 3003162	NM_012330.4(KAT6B):c.54G>A (p.Gln18=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 1094665	NM_012330.4(KAT6B):c.66G>A (p.Lys22=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 1363581	NM_012330.4(KAT6B):c.86A>T (p.Glu29Val)	KAT6B (E29V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	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 2051769	NM_012330.4(KAT6B):c.104C>T (p.Ala35Val)	KAT6B (A35V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GBenign
Select item 2772376	NM_012330.4(KAT6B):c.109A>G (p.Ser37Gly)	KAT6B (S37G)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1026356	NM_012330.4(KAT6B):c.112A>G (p.Thr38Ala)	KAT6B (T38A)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 561971	NM_012330.4(KAT6B):c.119A>G (p.His40Arg)	KAT6B (H40R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1112234	NM_012330.4(KAT6B):c.121G>A (p.Gly41Arg)	KAT6B (G41R)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 1705681	NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter)	KAT6B (K44*)	Single nucleotide variant (nonsense +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GLikely pathogenic
Select item 1204057	NM_012330.4(KAT6B):c.147A>G (p.Glu49=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GLikely benign
Select item 2888581	NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly)	KAT6B (S54G)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1978566	NM_012330.4(KAT6B):c.198A>G (p.Lys66=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2725362	NM_012330.4(KAT6B):c.222A>G (p.Pro74=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2146330	NM_012330.4(KAT6B):c.228C>T (p.Asn76=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2015064	NM_012330.4(KAT6B):c.230del (p.Pro77fs)	KAT6B (P77fs)	Deletion (frameshift variant +1 more)	Genitopatellar syndrome	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 2480374	NM_012330.4(KAT6B):c.279G>C (p.Lys93Asn)	KAT6B (K93N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 561960	NM_012330.4(KAT6B):c.282del (p.Ser95fs)	KAT6B (S95fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1475096	NM_012330.4(KAT6B):c.281G>A (p.Gly94Glu)	KAT6B (G94E)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1131768	NM_012330.4(KAT6B):c.282G>A (p.Gly94=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GLikely benign
Select item 2742381	NM_012330.4(KAT6B):c.291A>G (p.Gly97=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2818424	NM_012330.4(KAT6B):c.292T>A (p.Ser98Thr)	KAT6B (S98T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2134166	NM_012330.4(KAT6B):c.293C>T (p.Ser98Leu)	KAT6B (S98L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2971849	NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser)	KAT6B (N100S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GBenign
Select item 2231846	NM_012330.4(KAT6B):c.304C>A (p.Leu102Ile)	KAT6B (L102I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 300855	NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)	KAT6B (R103C)	Single nucleotide variant (missense variant +1 more)	KAT6B-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 2153872	NM_012330.4(KAT6B):c.308G>T (p.Arg103Leu)	KAT6B (R103L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1444688	NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr)	KAT6B (N104Y)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1610380	NM_012330.4(KAT6B):c.311A>G (p.Asn104Ser)	KAT6B (N104S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2751299	NM_012330.4(KAT6B):c.318T>C (p.Asp106=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2055001	NM_012330.4(KAT6B):c.338G>A (p.Arg113Lys)	KAT6B (R113K)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1602981	NM_012330.4(KAT6B):c.354T>C (p.Leu118=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
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 2874234	NM_012330.4(KAT6B):c.361C>T (p.Pro121Ser)	KAT6B (P121S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1049400	NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu)	KAT6B (P121L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1148850	NM_012330.4(KAT6B):c.363G>A (p.Pro121=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 499275	NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser)	KAT6B (N122S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2631645	NM_012330.4(KAT6B):c.368G>T (p.Gly123Val)	KAT6B (G123V)	Single nucleotide variant (missense variant +1 more)	KAT6B-related condition	GUncertain significance
Select item 300856	NM_012330.4(KAT6B):c.375C>T (p.Ser125=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	KAT6B-related condition +3 more	GBenign/Likely benign
Select item 2001467	NM_012330.4(KAT6B):c.376C>A (p.Leu126Met)	KAT6B (L126M)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1399696	NM_012330.4(KAT6B):c.385A>G (p.Ile129Val)	KAT6B (I129V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2739960	NM_012330.4(KAT6B):c.387A>G (p.Ile129Met)	KAT6B (I129M)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1696475	NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys)	KAT6B (E130K)	Single nucleotide variant (missense variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more	GUncertain significance
Select item 931621	NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp)	KAT6B (E130D)	Single nucleotide variant (missense variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GUncertain significance
Select item 3042493	NM_012330.4(KAT6B):c.392A>G (p.Lys131Arg)	KAT6B (K131R)	Single nucleotide variant (missense variant +1 more)	KAT6B-related condition	GUncertain significance
Select item 2631599	NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis)	KAT6B	Duplication (inframe_insertion +1 more)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 2062013	NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg)	KAT6B (S141R)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GBenign
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 2082039	NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala)	KAT6B (T143A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1993292	NM_012330.4(KAT6B):c.428C>T (p.Thr143Ile)	KAT6B (T143I)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2413511	NM_012330.4(KAT6B):c.431A>C (p.Asn144Thr)	KAT6B (N144T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2072162	NM_012330.4(KAT6B):c.441C>G (p.Ala147=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2912966	NM_012330.4(KAT6B):c.451C>A (p.Arg151=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 1515820	NM_012330.4(KAT6B):c.452G>A (p.Arg151Gln)	KAT6B (R151Q)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 620483	NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter)	KAT6B (R153*)	Single nucleotide variant (nonsense +1 more)	Genitopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2962541	NM_012330.4(KAT6B):c.460C>G (p.Leu154Val)	KAT6B (L154V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 978930	NM_012330.4(KAT6B):c.466dup (p.Ala156fs)	KAT6B (A156fs)	Duplication (frameshift variant +1 more)	Intellectual disability	GPathogenic
Select item 1131801	NM_012330.4(KAT6B):c.465G>A (p.Gly155=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2195060	NM_012330.4(KAT6B):c.466G>A (p.Ala156Thr)	KAT6B (A156T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 3016832	NM_012330.4(KAT6B):c.467C>T (p.Ala156Val)	KAT6B (A156V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2730420	NM_012330.4(KAT6B):c.474C>T (p.Arg158=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2878847	NM_012330.4(KAT6B):c.476C>G (p.Ala159Gly)	KAT6B (A159G)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
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 2863574	NM_012330.4(KAT6B):c.509C>G (p.Pro170Arg)	KAT6B (P170R)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1660041	NM_012330.4(KAT6B):c.510G>A (p.Pro170=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GBenign/Likely benign
Select item 2037830	NM_012330.4(KAT6B):c.513G>A (p.Gln171=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 707312	NM_012330.4(KAT6B):c.519G>A (p.Arg173=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GLikely benign
Select item 140478	NM_012330.4(KAT6B):c.527dup (p.Tyr176Ter)	KAT6B (Y176*)	Duplication (nonsense +1 more)	not provided	Gnot provided
Select item 2836377	NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys)	KAT6B (Y176C)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 1393568	NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu)	KAT6B (G177E)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2744828	NM_012330.4(KAT6B):c.533G>T (p.Ser178Ile)	KAT6B (S178I)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
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 2078157	NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr)	KAT6B (A184T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2125764	NM_012330.4(KAT6B):c.552A>C (p.Ala184=)	KAT6B (H5P)	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2429447	NM_012330.4(KAT6B):c.565A>T (p.Ser189Cys)	KAT6B (S189C)	Single nucleotide variant (missense variant +1 more)	Developmental delay	GUncertain significance
Select item 2721945	NM_012330.4(KAT6B):c.569C>T (p.Ala190Val)	KAT6B (A190V +1 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2055274	NM_012330.4(KAT6B):c.570A>G (p.Ala190=)	KAT6B (H11R)	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2698538	NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu)	KAT6B (F191L +1 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2064914	NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro)	KAT6B (S193P)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2013695	NM_012330.4(KAT6B):c.579C>A (p.Ser193=)	KAT6B (P14H)	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2747386	NM_012330.4(KAT6B):c.581C>T (p.Ser194Leu)	KAT6B (R15C +1 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2197313	NM_012330.4(KAT6B):c.582G>A (p.Ser194=)	KAT6B (R15H)	Single nucleotide variant (synonymous variant +1 more)	KAT6B-related condition +1 more	GLikely benign
Select item 1696303	NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)	KAT6B (P196A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	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 1714584	NM_012330.4(KAT6B):c.592G>C (p.Val198Leu)	KAT6B (V198L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GBenign
Select item 1561538	NM_012330.4(KAT6B):c.603A>G (p.Leu201=)	KAT6B (Y22C)	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 1543723	NM_012330.4(KAT6B):c.609T>C (p.His203=)	KAT6B (M24T)	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign

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