79639[geneid] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 2354349	NM_024587.4(TMEM53):c.814C>T (p.Arg272Cys)	TMEM53 (R199C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520816	NM_024587.4(TMEM53):c.791C>T (p.Thr264Ile)	TMEM53 (T233I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380046	NM_024587.4(TMEM53):c.728G>A (p.Arg243His)	TMEM53 (R213H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571596	NM_024587.4(TMEM53):c.707_715dup (p.Arg238_Arg239insLeuAlaArg)	TMEM53	Duplication (inframe_insertion)	Craniotubular dysplasia, Ikegawa type	GUncertain significance
Select item 2249864	NM_024587.4(TMEM53):c.712C>T (p.Arg238Cys)	TMEM53 (R165C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179542	NM_024587.4(TMEM53):c.688C>T (p.Arg230Cys)	TMEM53 (R157C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327130	NM_024587.4(TMEM53):c.637C>T (p.Leu213Phe)	TMEM53 (L183F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179541	NM_024587.4(TMEM53):c.625C>T (p.Arg209Cys)	TMEM53 (R179C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278996	NM_024587.4(TMEM53):c.599A>G (p.Tyr200Cys)	TMEM53 (Y200C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296554	NM_024587.4(TMEM53):c.545T>G (p.Val182Gly)	TMEM53 (V182G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288228	NM_024587.4(TMEM53):c.544G>A (p.Val182Ile)	TMEM53 (V109I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179540	NM_024587.4(TMEM53):c.493C>T (p.Arg165Trp)	TMEM53 (R134W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179538	NM_024587.4(TMEM53):c.400C>T (p.Arg134Cys)	TMEM53 (R134C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601601	NM_024587.4(TMEM53):c.392G>A (p.Arg131His)	TMEM53 (R100H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179537	NM_024587.4(TMEM53):c.367G>A (p.Val123Met)	TMEM53 (V92M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458366	NM_024587.4(TMEM53):c.343G>A (p.Gly115Ser)	TMEM53 (G42S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327127	NM_024587.4(TMEM53):c.301G>C (p.Glu101Gln)	TMEM53 (E28Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 986737	NM_024587.4(TMEM53):c.219_222dup (p.Val75fs)	TMEM53 (V2fs +1 more)	Duplication (frameshift variant +2 more)	TMEM53-related craniotubular dysplasia	GPathogenic
Select item 3179536	NM_024587.4(TMEM53):c.217C>A (p.His73Asn)	TMEM53 (H73N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2391791	NM_024587.4(TMEM53):c.193G>A (p.Val65Ile)	TMEM53 (V65I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2208865	NM_024587.4(TMEM53):c.182G>A (p.Arg61Lys)	TMEM53 (R61K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554891	NM_024587.4(TMEM53):c.169A>G (p.Ile57Val)	TMEM53 (I57V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327128	NM_024587.4(TMEM53):c.167C>T (p.Ala56Val)	TMEM53 (A56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336452	NM_024587.4(TMEM53):c.131G>T (p.Gly44Val)	TMEM53 (G44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327129	NM_024587.4(TMEM53):c.127T>C (p.Trp43Arg)	TMEM53 (W43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369031	NM_024587.4(TMEM53):c.100C>T (p.Arg34Trp)	TMEM53 (R34W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 986738	NM_024587.4(TMEM53):c.62-5_62-3del	TMEM53	Deletion (intron variant)	TMEM53-related craniotubular dysplasia	GPathogenic
Select item 3033730	NM_024587.4(TMEM53):c.26C>T (p.Thr9Ile)	TMEM53 (T9I)	Single nucleotide variant (5 prime UTR variant +1 more)	TMEM53-related disorder	GLikely benign
Select item 3063077	GRCh37/hg19 1p34.1(chr1:44810778-45212378)x3	ARMH1, ERI3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814069	GRCh37/hg19 1p34.1(chr1:44810778-45216633)x3	TMEM53, ARMH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 41