TMEM236[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 148834	GRCh38/hg38 10p12.33(chr10:17632287-17934423)x1	LOC129390145, MIR511 +4 more	Copy number loss	See cases	GLikely benign
Select item 144992	GRCh38/hg38 10p12.33(chr10:17767524-17839747)x1	MRC1, TMEM236	Copy number loss	See cases	Gconflicting data from submitters
Select item 144991	GRCh38/hg38 10p12.33(chr10:17767524-17839747)x3	MRC1, TMEM236	Copy number gain	See cases	GLikely benign
Select item 2545853	NM_001098844.3(TMEM236):c.277T>C (p.Cys93Arg)	TMEM236 (C93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253993	NM_001098844.3(TMEM236):c.328G>A (p.Glu110Lys)	TMEM236 (E110K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672394	NM_001098844.3(TMEM236):c.330G>C (p.Glu110Asp)	TMEM236 (E110D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 982066	NM_001098844.3(TMEM236):c.667G>A (p.Gly223Arg)	TMEM236 (G223R)	Single nucleotide variant (missense variant)	not specified	GBenign