"GeneDx"[submitter] AND "PMPCB"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 1234182	NC_000007.14:g.103297313A>G	PMPCB	Single nucleotide variant	not provided	GBenign
Select item 1179481	NM_004279.3(PMPCB):c.-23C>T	LOC129999056, PMPCB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1268549	NM_004279.3(PMPCB):c.104T>C (p.Leu35Ser)	PMPCB (L35S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1280327	NM_004279.3(PMPCB):c.241-3A>G	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371243	NM_004279.3(PMPCB):c.317T>C (p.Met106Thr)	PMPCB (M106T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281221	NM_004279.3(PMPCB):c.328-43T>C	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1030759	NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)	PMPCB (L157R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2274145	NM_004279.3(PMPCB):c.479T>C (p.Ile160Thr)	PMPCB (I160T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2634037	NM_004279.3(PMPCB):c.626G>A (p.Arg209Gln)	PMPCB (R209Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1234421	NM_004279.3(PMPCB):c.737-3T>C	PMPCB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1241629	NM_004279.3(PMPCB):c.994-45G>A	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342487	NM_004279.3(PMPCB):c.1007A>G (p.Lys336Arg)	PMPCB (K336R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030756	NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg)	PMPCB (W363R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1181555	NM_004279.3(PMPCB):c.1154+220del	PMPCB	Deletion (intron variant)	not provided	GBenign
Select item 1288655	NM_004279.3(PMPCB):c.1155-171T>C	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245557	NM_004279.3(PMPCB):c.1188G>T (p.Glu396Asp)	PMPCB (E396D)	Single nucleotide variant (missense variant)	not provided	GBenign