ClinVar for Gene (Select 25936) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	LRRN2, MAPKAPK2 +185 more	Deletion	not provided	GPathogenic
Select item 3202365	NM_015471.4(NSL1):c.94C>T (p.Pro32Ser)	NSL1 (P32S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202364	NM_015471.4(NSL1):c.838G>T (p.Asp280Tyr)	NSL1 (D239Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202363	NM_015471.4(NSL1):c.212C>T (p.Pro71Leu)	NSL1 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554641	NM_015471.4(NSL1):c.626C>G (p.Pro209Arg)	NSL1 (P168R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2519969	NM_015471.4(NSL1):c.13C>T (p.Pro5Ser)	LOC129932483, NSL1 (P5S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488412	NM_015471.4(NSL1):c.809A>G (p.Tyr270Cys)	NSL1 (Y229C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2395838	NM_015471.4(NSL1):c.7G>A (p.Gly3Arg)	LOC129932483, NSL1 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384512	NM_015471.4(NSL1):c.577G>A (p.Ala193Thr)	NSL1 (A152T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2343126	NM_015471.4(NSL1):c.552C>G (p.Ile184Met)	NSL1 (Q213E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343125	NM_015471.4(NSL1):c.551T>A (p.Ile184Asn)	NSL1 (D212E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313000	NM_015471.4(NSL1):c.38C>A (p.Pro13Gln)	LOC129932483, NSL1 (P13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288762	NM_015471.4(NSL1):c.204T>G (p.Ile68Met)	NSL1 (I68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265227	NM_015471.4(NSL1):c.793C>T (p.Pro265Ser)	NSL1 (P265S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1340358	GRCh37/hg19 1q32.3(chr1:212846338-213356017)x3	ANGEL2, BATF3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	ANGEL2, ATF3 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 832455	NC_000001.11:g.(?_212782372)_(212951818_?)del	FLVCR1, FLVCR1-DT +4 more	Deletion	not provided	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 783965	NM_015471.4(NSL1):c.39A>G (p.Pro13=)	LOC129932483, NSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709035	NM_015471.4(NSL1):c.96C>A (p.Pro32=)	NSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253783	GRCh37/hg19 1q32.3(chr1:212859808-213336495)x3	FLVCR1, FLVCR1-DT +7 more	Copy number gain	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37