84336[Gene ID] - ClinVar

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Items: 29

	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 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 2499654	GRCh38/hg38 17q21.31(chr17:43603558-44033313)	CD300LG, CFAP97D1 +29 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2490205	NM_032376.4(TMEM101):c.718C>T (p.Leu240Phe)	TMEM101 (L182F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326619	NM_032376.4(TMEM101):c.637C>G (p.Pro213Ala)	TMEM101 (P155A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326618	NM_032376.4(TMEM101):c.604C>A (p.Leu202Ile)	TMEM101 (L144I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326617	NM_032376.4(TMEM101):c.413G>A (p.Arg138His)	TMEM101 (R138H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178389	NM_032376.4(TMEM101):c.412C>T (p.Arg138Cys)	TMEM101 (R138C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486450	NM_032376.4(TMEM101):c.332C>T (p.Ser111Leu)	TMEM101 (S53L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295082	NM_032376.4(TMEM101):c.284T>A (p.Ile95Asn)	LOC126862572, TMEM101 (I95N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356368	NM_032376.4(TMEM101):c.274G>A (p.Ala92Thr)	LOC126862572, TMEM101 (A34T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482776	NM_032376.4(TMEM101):c.245C>T (p.Ala82Val)	LOC126862572, TMEM101 (A24V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253665	NM_032376.4(TMEM101):c.88G>T (p.Gly30Cys)	LOC126862572, TMEM101 (G30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408479	NM_032376.4(TMEM101):c.77G>A (p.Cys26Tyr)	LOC126862572, TMEM101 (C26Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547614	NM_032376.4(TMEM101):c.65T>C (p.Leu22Pro)	LOC126862572, TMEM101 (L22P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774518	NM_032376.4(TMEM101):c.54G>A (p.Leu18=)	LOC126862572, TMEM101	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3178390	NM_032376.4(TMEM101):c.43A>T (p.Ile15Phe)	LOC126862572, TMEM101 (I15F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178388	NM_032376.4(TMEM101):c.16G>C (p.Gly6Arg)	LOC126862572, TMEM101 (G6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475134	NM_032376.4(TMEM101):c.16G>A (p.Gly6Ser)	LOC126862572, TMEM101 (G6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178387	NM_032376.4(TMEM101):c.12G>C (p.Lys4Asn)	LOC126862572, TMEM101 (K4N)	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 1340600	GRCh37/hg19 17q21.31(chr17:42085508-42361563)x3	ASB16, ATXN7L3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815937	GRCh37/hg19 17q21.31(chr17:41399892-42125780)x3	ARL4D, CD300LG +13 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

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Items: 29