24557[HGNC] - ClinVar

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Items: 65

	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 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 2262801	NM_015462.5(NOL11):c.11T>C (p.Leu4Pro)	NOL11 (L4P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469961	NM_015462.5(NOL11):c.18A>T (p.Glu6Asp)	NOL11 (E6D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402301	NM_015462.5(NOL11):c.19G>A (p.Glu7Lys)	NOL11 (E7K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618571	NM_015462.5(NOL11):c.46A>G (p.Ser16Gly)	NOL11 (S16G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3300258	NM_015462.5(NOL11):c.55C>T (p.Pro19Ser)	LOC130061494, NOL11 (P19S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2533098	NM_015462.5(NOL11):c.76G>A (p.Glu26Lys)	LOC130061494, NOL11 (E26K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474410	NM_015462.5(NOL11):c.98A>C (p.Gln33Pro)	LOC130061494, NOL11 (Q33P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201039	NM_015462.5(NOL11):c.158C>G (p.Pro53Arg)	NOL11 (P53R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2383296	NM_015462.5(NOL11):c.185G>A (p.Gly62Asp)	NOL11 (G62D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206896	NM_015462.5(NOL11):c.189A>T (p.Gln63His)	NOL11 (Q63H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538332	NM_015462.5(NOL11):c.205G>A (p.Ala69Thr)	NOL11 (A69T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2620555	NM_015462.5(NOL11):c.227G>A (p.Gly76Glu)	NOL11 (G76E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2269035	NM_015462.5(NOL11):c.233A>C (p.Tyr78Ser)	NOL11 (Y78S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201041	NM_015462.5(NOL11):c.286A>T (p.Asn96Tyr)	NOL11 (N96Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300260	NM_015462.5(NOL11):c.340T>C (p.Ser114Pro)	NOL11 (S114P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540697	NM_015462.5(NOL11):c.343G>T (p.Val115Leu)	NOL11 (V115L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590075	NM_015462.5(NOL11):c.375G>T (p.Lys125Asn)	NOL11 (K125N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2542163	NM_015462.5(NOL11):c.389G>A (p.Arg130His)	NOL11 (R130H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366016	NM_015462.5(NOL11):c.422A>G (p.Gln141Arg)	NOL11 (Q141R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201043	NM_015462.5(NOL11):c.439A>G (p.Ile147Val)	NOL11 (I147V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 768912	NM_015462.5(NOL11):c.516A>G (p.Glu172=)	NOL11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2217075	NM_015462.5(NOL11):c.559C>G (p.Arg187Gly)	NOL11 (R5G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358871	NM_015462.5(NOL11):c.637C>T (p.Arg213Trp)	NOL11 (R213W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309319	NM_015462.5(NOL11):c.646A>G (p.Ile216Val)	NOL11 (I216V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312387	NM_015462.5(NOL11):c.657G>C (p.Met219Ile)	NOL11 (M219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201044	NM_015462.5(NOL11):c.698C>T (p.Pro233Leu)	NOL11 (P233L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768913	NM_015462.5(NOL11):c.793C>G (p.Leu265Val)	NOL11 (L83V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2371696	NM_015462.5(NOL11):c.920C>T (p.Thr307Ile)	NOL11 (T125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249625	NM_015462.5(NOL11):c.941A>G (p.Tyr314Cys)	NOL11 (Y314C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201034	NM_015462.5(NOL11):c.1019G>A (p.Gly340Asp)	NOL11 (G158D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484911	NM_015462.5(NOL11):c.1052C>G (p.Pro351Arg)	NOL11 (P169R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409412	NM_015462.5(NOL11):c.1123T>C (p.Ser375Pro)	NOL11 (S193P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300261	NM_015462.5(NOL11):c.1176G>C (p.Gln392His)	NOL11 (Q210H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201035	NM_015462.5(NOL11):c.1237A>G (p.Ile413Val)	NOL11 (I231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524413	NM_015462.5(NOL11):c.1336G>T (p.Ala446Ser)	NOL11 (A446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309209	NM_015462.5(NOL11):c.1345T>A (p.Ser449Thr)	NOL11 (S267T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201036	NM_015462.5(NOL11):c.1458A>C (p.Leu486Phe)	NOL11 (L486F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201037	NM_015462.5(NOL11):c.1495T>A (p.Ser499Thr)	NOL11 (S499T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201038	NM_015462.5(NOL11):c.1546C>T (p.Leu516Phe)	NOL11 (L516F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357379	NM_015462.5(NOL11):c.1586A>G (p.Tyr529Cys)	NOL11 (Y529C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514610	NM_015462.5(NOL11):c.1614A>C (p.Lys538Asn)	NOL11 (K356N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379283	NM_015462.5(NOL11):c.1724G>T (p.Ser575Ile)	NOL11 (S575I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201040	NM_015462.5(NOL11):c.1777C>T (p.His593Tyr)	NOL11 (H411Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300257	NM_015462.5(NOL11):c.1835A>G (p.His612Arg)	NOL11 (H612R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300259	NM_015462.5(NOL11):c.1861T>C (p.Tyr621His)	NOL11 (Y621H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345361	NM_015462.5(NOL11):c.1950A>G (p.Ile650Met)	NOL11 (I650M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559375	NM_015462.5(NOL11):c.2018A>G (p.Asn673Ser)	NOL11 (N673S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1809478	GRCh37/hg19 17q24.2(chr17:65387148-65784940)x1	NOL11, PITPNC1	Copy number loss	not provided	GUncertain significance
Select item 980725	GRCh37/hg19 17q24.2(chr17:65709215-65952716)x1	BPTF, NOL11	Copy number loss	not provided	GPathogenic
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 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	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 431067	Single allele	BPTF, NOL11	Deletion	Global developmental delay +2 more	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	ABCA10, ABCA5 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 65