1353[geneid] - ClinVar

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Items: 32

	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 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 146590	GRCh38/hg38 17q22(chr17:54504880-54964104)x3	COX11, LOC129390891 +5 more	Copy number gain	See cases	GBenign
Select item 3181116	NM_005486.3(TOM1L1):c.1388T>C (p.Ile463Thr)	COX11, TOM1L1 (I386T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518343	NM_004375.5(COX11):c.812C>T (p.Pro271Leu)	COX11 (P271L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2504640	NM_004375.5(COX11):c.786T>G (p.Phe262Leu)	COX11 (F262L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GUncertain significance
Select item 3061779	NM_004375.5(COX11):c.766dup (p.Thr256fs)	COX11 (T256fs)	Duplication (frameshift variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic
Select item 3076437	NM_004375.5(COX11):c.764T>C (p.Ile255Thr)	COX11 (I255T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3061780	NM_004375.5(COX11):c.739C>A (p.Pro247Thr)	COX11	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic
Select item 2443970	NM_004375.5(COX11):c.730G>C (p.Ala244Pro)	COX11 (A244P)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic
Select item 2504641	NM_004375.5(COX11):c.668A>G (p.Gln223Arg)	COX11 (Q223R)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 23	GUncertain significance
Select item 3269037	NM_004375.5(COX11):c.382G>A (p.Gly128Arg)	COX11 (G128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546301	NM_004375.5(COX11):c.362G>A (p.Cys121Tyr)	COX11 (C121Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229573	NM_004375.5(COX11):c.253G>A (p.Glu85Lys)	COX11 (E85K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242412	NM_004375.5(COX11):c.212C>T (p.Pro71Leu)	COX11 (P71L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076435	NM_004375.5(COX11):c.158T>C (p.Leu53Pro)	COX11 (L53P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477754	NM_004375.5(COX11):c.104T>G (p.Phe35Cys)	COX11 (F35C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3076434	NM_004375.5(COX11):c.101C>G (p.Pro34Arg)	COX11 (P34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269039	NM_004375.5(COX11):c.88G>C (p.Glu30Gln)	COX11 (E30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269040	NM_004375.5(COX11):c.71C>G (p.Ser24Cys)	COX11 (S24C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443971	NM_004375.5(COX11):c.35_36delinsG (p.Val12fs)	COX11 (V12fs)	Indel (frameshift variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 23	GPathogenic
Select item 2362490	NM_004375.5(COX11):c.23G>C (p.Gly8Ala)	COX11 (G8A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297263	NM_004375.5(COX11):c.13T>A (p.Trp5Arg)	COX11 (W5R)	Single nucleotide variant (missense variant +1 more)	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 2684852	GRCh37/hg19 17q22(chr17:52678606-53155682)x3	COX11, STXBP4 +1 more	Copy number gain	not provided	GUncertain significance
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
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic

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Items: 32