11979[HGNC] - ClinVar

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Items: 30

	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 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 3180942	NM_005749.4(TOB1):c.962T>C (p.Phe321Ser)	TOB1 (F182S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514588	NM_005749.4(TOB1):c.950A>G (p.Asn317Ser)	TOB1 (N178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543243	NM_005749.4(TOB1):c.901C>T (p.Leu301Phe)	TOB1 (L162F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180941	NM_005749.4(TOB1):c.881G>T (p.Ser294Ile)	TOB1 (S294I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525125	NM_005749.4(TOB1):c.872C>T (p.Pro291Leu)	TOB1 (P152L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358931	NM_005749.4(TOB1):c.829C>G (p.Pro277Ala)	TOB1 (P277A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377367	NM_005749.4(TOB1):c.815A>C (p.Lys272Thr)	TOB1 (K133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250163	NM_005749.4(TOB1):c.786G>C (p.Gln262His)	TOB1 (Q262H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180940	NM_005749.4(TOB1):c.676A>G (p.Met226Val)	TOB1 (M87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242814	NM_005749.4(TOB1):c.668C>T (p.Ser223Phe)	TOB1 (S223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350132	NM_005749.4(TOB1):c.619A>G (p.Ile207Val)	TOB1 (I207V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327966	NM_005749.4(TOB1):c.604G>A (p.Ala202Thr)	TOB1 (A202T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548388	NM_005749.4(TOB1):c.568A>T (p.Thr190Ser)	TOB1 (T51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270717	NM_005749.4(TOB1):c.461C>T (p.Ser154Leu)	TOB1 (S154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568615	NM_005749.4(TOB1):c.424A>G (p.Ile142Val)	TOB1 (I3V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327965	NM_005749.4(TOB1):c.369G>T (p.Glu123Asp)	TOB1 (E123D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180939	NM_005749.4(TOB1):c.349A>G (p.Asn117Asp)	TOB1 (N117D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180938	NM_005749.4(TOB1):c.124G>C (p.Gly42Arg)	TOB1 (G42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538505	NM_005749.4(TOB1):c.77A>G (p.Asn26Ser)	TOB1 (N26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394402	NM_005749.4(TOB1):c.17A>G (p.Gln6Arg)	TOB1 (Q6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242218	Single allele	ABCC3, ABI3 +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	AARSD1, AATF +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	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: 30