"GeneDx"[submitter] AND "ENTPD1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 59401	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1	C10orf131, CC2D2B +24 more	Copy number loss	See cases	GUncertain significance
Select item 673866	NM_015631.5(TCTN3):c.-296C>T	ENTPD1, TCTN3	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1204246	NC_000010.11:g.95694421del	ENTPD1, TCTN3	Deletion	not provided	GLikely benign
Select item 1231867	NC_000010.11:g.95694421T>A	ENTPD1, TCTN3	Single nucleotide variant	not provided	GBenign
Select item 1280603	NC_000010.11:g.95694433_95694435del	ENTPD1, TCTN3	Deletion	not provided	GBenign
Select item 1273184	NC_000010.11:g.95694422A>T	TCTN3, ENTPD1	Single nucleotide variant	not provided	GBenign
Select item 1228517	NC_000010.11:g.95694435del	ENTPD1, TCTN3	Deletion	not provided	GBenign
Select item 1227410	NC_000010.11:g.95694423A>T	ENTPD1, TCTN3	Single nucleotide variant	not provided	GBenign
Select item 1276508	NC_000010.11:g.95694424_95694425insTT	ENTPD1, TCTN3	Insertion	not provided	GBenign
Select item 1300977	NM_001098175.2(ENTPD1):c.-131T>C	ENTPD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1292728	NM_001098175.2(ENTPD1):c.37+175T>C	ENTPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249702	NC_000010.11:g.95755380G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 547899	NM_001320916.1(ENTPD1):c.52G>A (p.Glu18Lys)	ENTPD1-AS1, LOC130004411 +1 more (E18K)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1234750	NM_001776.4(ENTPD1):c.-409T>C	ENTPD1, ENTPD1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1274919	NM_001776.6(ENTPD1):c.16+273del	ENTPD1, ENTPD1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1342044	NM_001776.6(ENTPD1):c.17-26T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167097	NM_001776.6(ENTPD1):c.234G>C (p.Val78=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 64 +1 more	GBenign
Select item 1293398	NM_001776.6(ENTPD1):c.263-207A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260913	NM_001776.6(ENTPD1):c.263-127A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165130	NM_001776.6(ENTPD1):c.263-10T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1800605	NM_001776.6(ENTPD1):c.413+210dup	ENTPD1, ENTPD1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1265195	NM_001776.6(ENTPD1):c.413+210del	ENTPD1, ENTPD1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1810737	NM_001776.6(ENTPD1):c.509C>T (p.Thr170Ile)	ENTPD1, ENTPD1-AS1 (T170I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663477	NM_001776.6(ENTPD1):c.536G>A (p.Trp179Ter)	ENTPD1, ENTPD1-AS1 (W179* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1167053	NM_001776.6(ENTPD1):c.573+14A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64 +1 more	GBenign
Select item 1229795	NM_001776.6(ENTPD1):c.573+111T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300976	NM_001776.6(ENTPD1):c.573+136G>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288652	NM_001776.6(ENTPD1):c.573+259A>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234347	NM_001776.6(ENTPD1):c.574-173T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293401	NM_001776.6(ENTPD1):c.574-57C>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293400	NM_001776.6(ENTPD1):c.814-128C>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178692	NM_001776.6(ENTPD1):c.814-38G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3370261	NM_001776.6(ENTPD1):c.860A>T (p.Tyr287Phe)	ENTPD1, ENTPD1-AS1 (Y149F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 703843	NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile)	ENTPD1, ENTPD1-AS1 (V155I +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64 +2 more	GBenign
Select item 1253258	NM_001776.6(ENTPD1):c.1074+181G>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259114	NM_001776.6(ENTPD1):c.1189-274A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253239	NM_001776.6(ENTPD1):c.1189-105G>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239005	NM_001776.6(ENTPD1):c.1326+91A>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181858	NM_001776.6(ENTPD1):c.1326+222T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2661919	NM_001776.6(ENTPD1):c.1396C>T (p.Gln466Ter)	ENTPD1, ENTPD1-AS1 (Q328* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

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Items: 42