ClinVar for Gene (Select 7164) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328268	NM_003287.4(TPD52L1):c.85A>G (p.Ser29Gly)	TPD52L1 (S29G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3181515	NM_003287.4(TPD52L1):c.535C>G (p.Leu179Val)	TPD52L1 (L150V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181514	NM_003287.4(TPD52L1):c.499G>A (p.Gly167Ser)	TPD52L1 (G167S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685214	GRCh37/hg19 6q22.31(chr6:123554219-125882578)x1	HDDC2, NKAIN2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2606908	NM_003287.4(TPD52L1):c.89T>C (p.Met30Thr)	TPD52L1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2559730	NM_003287.4(TPD52L1):c.604C>G (p.Leu202Val)	TPD52L1 (L173V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519644	NM_003287.4(TPD52L1):c.503C>T (p.Thr168Met)	TPD52L1 (T173M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515005	NM_003287.4(TPD52L1):c.347A>G (p.Asn116Ser)	TPD52L1 (N116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271602	NM_003287.4(TPD52L1):c.198G>C (p.Glu66Asp)	TPD52L1 (E66D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 31