KAT7[all] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 2594662	NM_007067.5(KAT7):c.71T>C (p.Leu24Pro)	KAT7 (L24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295891	NM_007067.5(KAT7):c.292C>T (p.Arg98Cys)	KAT7 (R98C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494266	NM_007067.5(KAT7):c.352A>G (p.Thr118Ala)	KAT7 (T118A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458642	NM_007067.5(KAT7):c.528T>G (p.His176Gln)	KAT7 (H176Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517261	NM_007067.5(KAT7):c.655G>A (p.Glu219Lys)	KAT7 (E219K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562026	NM_007067.5(KAT7):c.761C>T (p.Thr254Met)	KAT7 (T224M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541825	NM_007067.5(KAT7):c.817T>G (p.Ser273Ala)	KAT7 (S193A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243564	NM_007067.5(KAT7):c.1018A>G (p.Ile340Val)	KAT7 (I171V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309652	NM_007067.5(KAT7):c.1031G>T (p.Arg344Leu)	KAT7 (R175L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320712	NM_007067.5(KAT7):c.1136C>T (p.Thr379Met)	KAT7 (T210M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365043	NM_007067.5(KAT7):c.1210A>G (p.Ile404Val)	KAT7 (I294V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730718	NM_007067.5(KAT7):c.1347G>A (p.Ala449=)	KAT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2445221	NM_007067.5(KAT7):c.1480A>G (p.Ser494Gly)	KAT7 (S325G +5 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 161655	NM_007067.5(KAT7):c.1687C>T (p.Gln563Ter)	KAT7 (Q563* +5 more)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 2534861	NM_007067.5(KAT7):c.1784A>G (p.Asn595Ser)	KAT7 (N426S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274453	NM_007067.5(KAT7):c.1827G>C (p.Lys609Asn)	KAT7 (K529N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25