"GeneDx"[submitter] AND "TMEM126B"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1219849	NC_000011.10:g.85628257G>A	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 671602	NM_018480.4(TMEM126B):c.-308C>T	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 684192	NM_018480.4(TMEM126B):c.-272T>A	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 673800	NM_018480.4(TMEM126B):c.-217G>T	TMEM126B	Single nucleotide variant	not provided	GBenign
Select item 1209146	NC_000011.10:g.85628393C>A	TMEM126B	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 667503	NM_018480.4(TMEM126B):c.-110G>T	TMEM126B	Single nucleotide variant	not provided	GBenign
Select item 3253245	NM_018480.7(TMEM126B):c.32A>C (p.Lys11Thr)	TMEM126B (K11T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1218019	NM_018480.7(TMEM126B):c.81+731G>A	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671603	NM_018480.7(TMEM126B):c.81+859C>T	TMEM126B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202470	NM_018480.7(TMEM126B):c.83T>C (p.Val28Ala)	TMEM126B (V28A +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign/Likely benign
Select item 1203741	NM_018480.7(TMEM126B):c.125C>T (p.Ser42Phe)	TMEM126B (S12F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1205515	NM_018480.7(TMEM126B):c.203+70A>G	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671604	NM_018480.7(TMEM126B):c.203+107T>C	TMEM126B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3375628	NM_018480.7(TMEM126B):c.204-3T>A	TMEM126B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3340986	NM_018480.7(TMEM126B):c.227C>T (p.Ala76Val)	TMEM126B (A30V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2499328	NM_018480.7(TMEM126B):c.307G>A (p.Ala103Thr)	TMEM126B (A103T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253166	NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn)	TMEM126B (D133N +6 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 29 +1 more	GLikely pathogenic
Select item 1191389	NM_018480.7(TMEM126B):c.397+109A>G	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1208603	NM_018480.7(TMEM126B):c.397+222G>A	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194628	NM_018480.7(TMEM126B):c.397+245A>G	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1190235	NM_018480.7(TMEM126B):c.398-301C>T	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1256970	NM_018480.7(TMEM126B):c.398-239dup	TMEM126B	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1210566	NM_018480.7(TMEM126B):c.398-80A>G	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2499185	NM_018480.7(TMEM126B):c.412G>A (p.Glu138Lys)	TMEM126B (E108K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182182	NM_018480.7(TMEM126B):c.440T>C (p.Ile147Thr)	TMEM126B (I127T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413093	NM_018480.7(TMEM126B):c.463T>C (p.Tyr155His)	TMEM126B (Y109H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394098	NM_018480.7(TMEM126B):c.466C>A (p.Pro156Thr)	TMEM126B (P126T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 708535	NM_018480.7(TMEM126B):c.519C>T (p.Thr173=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1170036	NM_018480.7(TMEM126B):c.593C>T (p.Ala198Val)	TMEM126B (A123V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 236209	NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)	TMEM126B (G212V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2571766	NM_018480.7(TMEM126B):c.664A>C (p.Thr222Pro)	TMEM126B (T147P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1191742	NM_018480.7(TMEM126B):c.688G>A (p.Glu230Lys)	TMEM126B (E155K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1224731	NM_018480.7(TMEM126B):c.*142G>A	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 36