ClinVar for Gene (Select 26207) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063529	GRCh37/hg19 17q24.2(chr17:65667922-65892990)x3	BPTF, NOL11 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2684854	GRCh37/hg19 17q24.2(chr17:65667923-65892990)x3	BPTF, NOL11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2616072	NM_012417.4(PITPNC1):c.244G>A (p.Val82Met)	PITPNC1 (V82M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543895	NM_012417.4(PITPNC1):c.677G>T (p.Trp226Leu)	LOC101928045, PITPNC1 (W226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543894	NM_012417.4(PITPNC1):c.676T>G (p.Trp226Gly)	LOC101928045, PITPNC1 (W226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378814	NM_012417.4(PITPNC1):c.748G>A (p.Gly250Ser)	LOC101928045, PITPNC1 (G250S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285513	NM_012417.4(PITPNC1):c.509G>C (p.Arg170Thr)	PITPNC1 (R170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809478	GRCh37/hg19 17q24.2(chr17:65387148-65784940)x1	NOL11, PITPNC1	Copy number loss	not provided	GUncertain significance
Select item 815947	GRCh37/hg19 17q24.2(chr17:65289140-65422972)x1	PSMD12, PITPNC1	Copy number loss	not provided	GLikely pathogenic
Select item 815946	GRCh37/hg19 17q24.2(chr17:65050304-65440440)x3	PSMD12, HELZ +2 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688525	GRCh37/hg19 17q24.2(chr17:65333593-65475925)x3	PITPNC1, PSMD12	Copy number gain	not provided	GUncertain significance
Select item 687720	GRCh37/hg19 17q24.2(chr17:65500960-65536603)x1	PITPNC1	Copy number loss	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564464	GRCh37/hg19 17q24.2(chr17:64963389-65726146)x3	CACNG4, PITPNC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA8, PSMD12 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26