11143[Gene ID] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +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)	not specified	GUncertain significance
Select item 3287401	NM_007067.5(KAT7):c.118G>A (p.Ala40Thr)	KAT7 (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287399	NM_007067.5(KAT7):c.256C>G (p.Pro86Ala)	KAT7 (P86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295891	NM_007067.5(KAT7):c.292C>T (p.Arg98Cys)	KAT7 (R98C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494266	NM_007067.5(KAT7):c.352A>G (p.Thr118Ala)	KAT7 (T118A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287402	NM_007067.5(KAT7):c.398C>T (p.Ala133Val)	KAT7 (A133V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287403	NM_007067.5(KAT7):c.403T>C (p.Ser135Pro)	KAT7 (S135P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287400	NM_007067.5(KAT7):c.419T>C (p.Ile140Thr)	KAT7 (I140T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458642	NM_007067.5(KAT7):c.528T>G (p.His176Gln)	KAT7 (H176Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517261	NM_007067.5(KAT7):c.655G>A (p.Glu219Lys)	KAT7 (E219K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562026	NM_007067.5(KAT7):c.761C>T (p.Thr254Met)	KAT7 (T224M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541825	NM_007067.5(KAT7):c.817T>G (p.Ser273Ala)	KAT7 (S193A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112777	NM_007067.5(KAT7):c.821G>A (p.Gly274Glu)	KAT7 (G105E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112778	NM_007067.5(KAT7):c.834A>T (p.Glu278Asp)	KAT7 (E109D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112775	NM_007067.5(KAT7):c.1016C>T (p.Thr339Ile)	KAT7 (T170I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243564	NM_007067.5(KAT7):c.1018A>G (p.Ile340Val)	KAT7 (I171V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309652	NM_007067.5(KAT7):c.1031G>T (p.Arg344Leu)	KAT7 (R175L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320712	NM_007067.5(KAT7):c.1136C>T (p.Thr379Met)	KAT7 (T210M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365043	NM_007067.5(KAT7):c.1210A>G (p.Ile404Val)	KAT7 (I294V +5 more)	Single nucleotide variant (missense variant)	not specified	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 3112776	NM_007067.5(KAT7):c.1609A>C (p.Lys537Gln)	KAT7 (K457Q +5 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2274453	NM_007067.5(KAT7):c.1827G>C (p.Lys609Asn)	KAT7 (K529N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

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Items: 36