Related gene-specific medical variations for Gene (Select 7994) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062135	NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)	KAT6A (E1275fs)	Microsatellite (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3062049	NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)	KAT6A (Q1660fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 2690628	NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)	KAT6A (P1721fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2689274	NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)	KAT6A (K404E)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2689273	NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)	KAT6A (E1078D)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2689271	NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)	KAT6A (R299C)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2663859	NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)	KAT6A (D1115fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 2584655	NM_006766.5(KAT6A):c.5705A>G (p.Asn1902Ser)	KAT6A (N1902S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2582558	NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)	KAT6A (Q1746fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2582345	NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)	KAT6A (T1210N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2497688	NM_006766.5(KAT6A):c.3038A>G (p.Lys1013Arg)	KAT6A (K1013R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2441906	NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)	KAT6A (K1410fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2432969	NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)	KAT6A (G1590R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432968	NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)	KAT6A (Q743R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432966	NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)	KAT6A (K1170N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432965	NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)	KAT6A (S1458N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432964	NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)	KAT6A (S1548N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432963	NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)	KAT6A (Q1511H)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432962	NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)	KAT6A (T1510A)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2429909	NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)	KAT6A (Q258*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2429907	NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)	KAT6A (S1558R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 1803042	NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)	KAT6A (I1556T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1693305	NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val)	KAT6A (I1763V)	Single nucleotide variant (missense variant)	KAT6A syndrome	GUncertain significance
Select item 1341746	NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu)	KAT6A (P85L)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1334428	NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs)	KAT6A (E1307fs)	Microsatellite (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1323134	NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs)	KAT6A (Q1467fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1319833	NM_006766.5(KAT6A):c.4949A>C (p.Gln1650Pro)	KAT6A (Q1650P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300149	NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter)	KAT6A (R948*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1082502	NM_006766.5:c.3411del	KAT6A	Deletion	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 987501	NM_006766.5(KAT6A):c.3973G>T (p.Glu1325Ter)	KAT6A (E1325*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987373	NM_006766.5(KAT6A):c.1465_1471del (p.Gln489fs)	KAT6A (Q489fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986888	NM_006766.5(KAT6A):c.2437-1G>A	KAT6A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 975406	NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe)	KAT6A (I1556F)	Single nucleotide variant (missense variant)	KAT6A syndrome	GLikely pathogenic
Select item 975259	NM_006766.5(KAT6A):c.1663del (p.Gln555fs)	KAT6A (Q555fs)	Deletion (frameshift variant)	KAT6A syndrome	GPathogenic
Select item 975258	NM_006766.5(KAT6A):c.5027A>C (p.Gln1676Pro)	KAT6A (Q1676P)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975257	NM_006766.5(KAT6A):c.1662G>T (p.Gln554His)	KAT6A (Q554H)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 559638	NM_006766.5(KAT6A):c.3443del (p.Lys1148fs)	KAT6A (K1148fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 377054	NM_006766.5(KAT6A):c.3742G>A (p.Glu1248Lys)	KAT6A (E1248K)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38