ClinVar for Gene (Select 29982) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300992	NM_030759.5(NRBF2):c.109G>A (p.Ala37Thr)	NRBF2 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202025	NM_030759.5(NRBF2):c.758C>G (p.Ala253Gly)	NRBF2 (A243G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202024	NM_030759.5(NRBF2):c.64T>G (p.Leu22Val)	NRBF2 (L22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202023	NM_030759.5(NRBF2):c.637A>G (p.Lys213Glu)	NRBF2 (K213E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202022	NM_030759.5(NRBF2):c.631A>G (p.Ile211Val)	NRBF2 (I201V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202021	NM_030759.5(NRBF2):c.574T>G (p.Leu192Val)	NRBF2 (L192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202019	NM_030759.5(NRBF2):c.241G>A (p.Glu81Lys)	NRBF2 (E71K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2621179	NM_030759.5(NRBF2):c.112G>A (p.Ala38Thr)	NRBF2 (A38T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605470	NM_030759.5(NRBF2):c.646G>A (p.Asp216Asn)	NRBF2 (D206N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2559965	NM_030759.5(NRBF2):c.281C>T (p.Ala94Val)	NRBF2 (A84V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2475688	NM_030759.5(NRBF2):c.850T>A (p.Phe284Ile)	NRBF2 (F274I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405502	NM_030759.5(NRBF2):c.564G>C (p.Glu188Asp)	NRBF2 (E178D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398285	NM_030759.5(NRBF2):c.780T>G (p.Asn260Lys)	NRBF2 (N250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383325	NM_030759.5(NRBF2):c.526G>A (p.Ala176Thr)	NRBF2 (A176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265661	NM_030759.5(NRBF2):c.157G>A (p.Ala53Thr)	NRBF2 (A43T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1372882	NC_000010.10:g.(?_64572967)_(65225422_?)del	EGR2, JMJD1C +1 more	Deletion	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 815353	GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1	CDK1, CABCOCO1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33