ClinVar for Gene (Select 51110) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3536801	NM_016027.3(LACTB2):c.20G>A (p.Arg7His)	LACTB2 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536800	NM_016027.3(LACTB2):c.585A>G (p.Ile195Met)	LACTB2, LACTB2-AS1 (I195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536799	NM_016027.3(LACTB2):c.17A>C (p.Gln6Pro)	LACTB2 (Q6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536798	NM_016027.3(LACTB2):c.157C>G (p.Pro53Ala)	LACTB2, LACTB2-AS1 (P53A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3536797	NM_016027.3(LACTB2):c.257T>C (p.Ile86Thr)	LACTB2, LACTB2-AS1 (I86T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3391903	GRCh37/hg19 8q13.3(chr8:71483126-72968323)x1	EYA1, LACTB2 +4 more	Copy number loss	not provided	GPathogenic
Select item 3358727	NM_016027.3(LACTB2):c.610C>A (p.His204Asn)	LACTB2, LACTB2-AS1 (H204N)	Single nucleotide variant (missense variant)	LACTB2-related condition	GUncertain significance
Select item 3289838	NM_016027.3(LACTB2):c.686G>C (p.Arg229Pro)	LACTB2, LACTB2-AS1 (R229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289837	NM_016027.3(LACTB2):c.760C>T (p.His254Tyr)	LACTB2, LACTB2-AS1 (H254Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289836	NM_016027.3(LACTB2):c.28C>G (p.Arg10Gly)	LACTB2 (R10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117331	NM_016027.3(LACTB2):c.859C>T (p.His287Tyr)	LACTB2, LACTB2-AS1 (H287Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117330	NM_016027.3(LACTB2):c.686G>A (p.Arg229His)	LACTB2, LACTB2-AS1 (R229H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117328	NM_016027.3(LACTB2):c.635A>T (p.Gln212Leu)	LACTB2, LACTB2-AS1 (Q212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117327	NM_016027.3(LACTB2):c.210C>G (p.Ile70Met)	LACTB2, LACTB2-AS1 (I70M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117326	NM_016027.3(LACTB2):c.13C>G (p.Leu5Val)	LACTB2 (L5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117325	NM_016027.3(LACTB2):c.107T>G (p.Val36Gly)	LACTB2 (V36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063003	GRCh37/hg19 8q13.2-13.3(chr8:69889747-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 2685314	GRCh37/hg19 8q13.3(chr8:71556060-71631858)x1	LACTB2, XKR9	Copy number loss	not provided	GUncertain significance
Select item 2394250	NM_016027.3(LACTB2):c.659G>A (p.Arg220Gln)	LACTB2, LACTB2-AS1 (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390938	NM_016027.3(LACTB2):c.571A>C (p.Lys191Gln)	LACTB2, LACTB2-AS1 (K191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379620	NM_016027.3(LACTB2):c.430G>A (p.Gly144Ser)	LACTB2, LACTB2-AS1 (G144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364222	NM_016027.3(LACTB2):c.296A>G (p.Tyr99Cys)	LACTB2, LACTB2-AS1 (Y99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316292	NM_016027.3(LACTB2):c.170G>T (p.Ser57Ile)	LACTB2, LACTB2-AS1 (S57I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2219362	NM_016027.3(LACTB2):c.656T>C (p.Ile219Thr)	LACTB2, LACTB2-AS1 (I219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209741	NM_016027.3(LACTB2):c.340A>G (p.Ile114Val)	LACTB2, LACTB2-AS1 (I114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	ADGRB1, ADHFE1 +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1527439	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 1340774	GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not provided	GPathogenic
Select item 979238	GRCh37/hg19 8q13.3(chr8:71244655-71685822)x3	LACTB2, NCOA2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815135	GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3	TRAM1, PRDM14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685677	GRCh37/hg19 8q13.3(chr8:71475270-71849895)x1	LACTB2, TRAM1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563480	GRCh37/hg19 8q13.3(chr8:71525694-71835493)x3	LACTB2, XKR9	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443307	GRCh37/hg19 8q13.3(chr8:71198990-71920676)x1	LACTB2, NCOA2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441934	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	See cases	GPathogenic
Select item 395535	GRCh37/hg19 8q13.3(chr8:71549662-71647145)x3	LACTB2, XKR9	Copy number gain	See cases	GLikely benign
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253642	GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1	PRDM14, SULF1 +6 more	Copy number loss	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	GPIHBP1, GPR20 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	RB1CC1, RBIS +3661 more	Copy number gain	See cases	GPathogenic
Select item 149198	GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 148605	GRCh38/hg38 8q13.3(chr8:70625656-70804655)x1	LACTB2, LACTB2-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 145425	GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	CYP11B2, CYP7A1 +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	ADAM28, ADRA1A +3657 more	Copy number gain	See cases	GPathogenic
Select item 57153	GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1	C8orf34, EYA1 +53 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63