ClinVar for Gene (Select 2648) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3112729	NM_021078.3(KAT2A):c.292C>T (p.Pro98Ser)	KAT2A (P98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112728	NM_021078.3(KAT2A):c.202G>T (p.Gly68Trp)	KAT2A (G68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112727	NM_021078.3(KAT2A):c.1673G>A (p.Arg558Gln)	KAT2A (R558Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112725	NM_021078.3(KAT2A):c.1416G>A (p.Met472Ile)	KAT2A (M472I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 2647782	NM_021078.3(KAT2A):c.2340G>A (p.Glu780=)	KAT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627105	NM_021078.3(KAT2A):c.2032_2055del (p.Leu678_Gln685del)	KAT2A	Deletion (inframe_deletion)	See cases	GLikely pathogenic
Select item 2622353	NM_021078.3(KAT2A):c.11C>G (p.Pro4Arg)	KAT2A, LOC130060871 (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621895	NM_021078.3(KAT2A):c.1781T>C (p.Leu594Pro)	KAT2A (L594P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618148	NM_021078.3(KAT2A):c.794T>C (p.Leu265Pro)	KAT2A (L265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613693	NM_021078.3(KAT2A):c.1229G>T (p.Ser410Ile)	KAT2A (S410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569150	NM_021078.3(KAT2A):c.1907G>A (p.Ser636Asn)	KAT2A (S636N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541859	NM_021078.3(KAT2A):c.28C>G (p.Pro10Ala)	KAT2A, LOC130060871 (P10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540084	NM_021078.3(KAT2A):c.466G>C (p.Asp156His)	KAT2A (D156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516223	NM_021078.3(KAT2A):c.79A>G (p.Thr27Ala)	KAT2A (T27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488380	NM_021078.3(KAT2A):c.119C>G (p.Pro40Arg)	KAT2A (P40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487831	NM_021078.3(KAT2A):c.643C>T (p.Pro215Ser)	KAT2A (P215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481384	NM_021078.3(KAT2A):c.1126G>A (p.Glu376Lys)	KAT2A (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467474	NM_021078.3(KAT2A):c.1541G>A (p.Arg514Gln)	KAT2A (R514Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456455	NM_021078.3(KAT2A):c.1709C>G (p.Thr570Ser)	KAT2A (T570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400528	NM_021078.3(KAT2A):c.1526C>T (p.Thr509Met)	KAT2A (T509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392365	NM_021078.3(KAT2A):c.2369G>A (p.Arg790Gln)	KAT2A (R790Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376634	NM_021078.3(KAT2A):c.640C>T (p.Arg214Trp)	KAT2A (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372073	NM_021078.3(KAT2A):c.821C>T (p.Ala274Val)	KAT2A (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366542	NM_021078.3(KAT2A):c.1972C>T (p.Arg658Cys)	KAT2A (R658C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363954	NM_021078.3(KAT2A):c.2353C>T (p.Arg785Cys)	KAT2A (R786C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358674	NM_021078.3(KAT2A):c.1510A>G (p.Ile504Val)	KAT2A (I504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323152	NM_021078.3(KAT2A):c.49C>T (p.Arg17Trp)	KAT2A, LOC130060871 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290337	NM_021078.3(KAT2A):c.2185G>T (p.Asp729Tyr)	KAT2A (D729Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278166	NM_021078.3(KAT2A):c.158C>T (p.Ala53Val)	KAT2A (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261086	NM_021078.3(KAT2A):c.929G>A (p.Arg310His)	KAT2A (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257263	NM_021078.3(KAT2A):c.353G>C (p.Cys118Ser)	KAT2A (C118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254975	NM_021078.3(KAT2A):c.2386G>T (p.Asp796Tyr)	KAT2A (D796Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247112	NM_021078.3(KAT2A):c.1910G>A (p.Arg637His)	KAT2A (R637H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215067	NM_021078.3(KAT2A):c.296G>A (p.Arg99His)	KAT2A (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265662	NM_021078.3(KAT2A):c.464-18C>G	KAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249415	NM_021078.3(KAT2A):c.1990C>T (p.Leu664=)	KAT2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781301	NM_021078.3(KAT2A):c.2280G>A (p.Ser760=)	KAT2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775163	NM_021078.3(KAT2A):c.1181-33_1186del	KAT2A	Deletion (splice acceptor variant)	not provided	GBenign
Select item 773591	NM_021078.3(KAT2A):c.2155T>C (p.Leu719=)	KAT2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745850	NM_021078.3(KAT2A):c.458C>T (p.Pro153Leu)	KAT2A (P153L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 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

ClinVar

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Links from Gene

Items: 47