"GeneDx"[submitter] AND "TMEM107"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 1278253	NM_183065.4(TMEM107):c.*898TGTT[1]	TMEM107	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1288637	NM_183065.4(TMEM107):c.*877A>G	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1294573	NM_183065.4(TMEM107):c.*866G>A	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1225279	NM_183065.4(TMEM107):c.*854A>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1245232	NM_183065.4(TMEM107):c.*780T>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 265788	NM_183065.4(TMEM107):c.*759C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929264	NC_000017.11:g.8173448G>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1168310	NR_033294.2(SNORD118):n.129G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 929268	NR_033294.2(SNORD118):n.127C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1166962	NR_033294.2(SNORD118):n.105A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 929277	NR_033294.2(SNORD118):n.75A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2130952	NR_033294.2(SNORD118):n.60G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3364697	NR_033294.2(SNORD118):n.58A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1415738	NR_033294.2(SNORD118):n.55A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1165378	NR_033294.2(SNORD118):n.36C>T	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1584395	NR_033294.2(SNORD118):n.33C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1268304	NM_183065.4(TMEM107):c.*610T>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1278140	NC_000017.11:g.8173598C>T	TMEM107, SNORD118	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1222325	NM_183065.4(TMEM107):c.*605G>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1244167	NM_183065.4(TMEM107):c.*604T>G	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1308911	NM_183065.4(TMEM107):c.361C>G (p.Pro121Ala)	LOC105371520, TMEM107 (P114A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1259073	NM_183065.4(TMEM107):c.256+310A>G	LOC105371520, TMEM107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272287	NM_183065.4(TMEM107):c.256+46C>G	LOC105371520, TMEM107	Single nucleotide variant (intron variant)	Orofaciodigital syndrome 16 +2 more	GBenign

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Items: 24