ClinVar for Gene (Select 127391) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326574	NM_001008740.4(TMCO2):c.103G>A (p.Ala35Thr)	TMCO2 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178298	NM_001008740.4(TMCO2):c.371G>A (p.Gly124Asp)	TMCO2 (G124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178297	NM_001008740.4(TMCO2):c.283G>T (p.Gly95Cys)	TMCO2 (G95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2211570	NM_001008740.4(TMCO2):c.271C>A (p.Leu91Ile)	TMCO2 (L91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 685611	GRCh37/hg19 1p34.2(chr1:40657779-40758399)x3	RLF, TMCO2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +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
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic