ClinVar for Gene (Select 956) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3089076	NM_001248.4(ENTPD3):c.758C>T (p.Thr253Met)	ENTPD3, ENTPD3-AS1 (T253M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089075	NM_001248.4(ENTPD3):c.582G>A (p.Met194Ile)	ENTPD3, ENTPD3-AS1 (M194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089074	NM_001248.4(ENTPD3):c.419C>T (p.Ala140Val)	ENTPD3, ENTPD3-AS1 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089073	NM_001248.4(ENTPD3):c.347G>A (p.Cys116Tyr)	ENTPD3, ENTPD3-AS1 (C116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089072	NM_001248.4(ENTPD3):c.1555G>A (p.Glu519Lys)	ENTPD3, ENTPD3-AS1 (E519K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089071	NM_001248.4(ENTPD3):c.1538G>A (p.Arg513Lys)	ENTPD3, ENTPD3-AS1 (R513K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089070	NM_001248.4(ENTPD3):c.1390A>C (p.Met464Leu)	ENTPD3, ENTPD3-AS1 (M464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089069	NM_001248.4(ENTPD3):c.1283T>A (p.Ile428Asn)	ENTPD3, ENTPD3-AS1 (I428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653692	NM_001248.4(ENTPD3):c.791G>A (p.Arg264Gln)	ENTPD3, ENTPD3-AS1 (R264Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653691	NM_001248.4(ENTPD3):c.417G>A (p.Thr139=)	ENTPD3, ENTPD3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2560917	NM_001248.4(ENTPD3):c.668C>T (p.Ala223Val)	ENTPD3, ENTPD3-AS1 (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559163	NM_001248.4(ENTPD3):c.127A>T (p.Ile43Phe)	ENTPD3, ENTPD3-AS1 (I43F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547539	NM_001248.4(ENTPD3):c.1545G>C (p.Lys515Asn)	ENTPD3, ENTPD3-AS1 (K515N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530851	NM_001248.4(ENTPD3):c.49G>T (p.Ala17Ser)	ENTPD3, ENTPD3-AS1 (A17S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519684	NM_001248.4(ENTPD3):c.929T>G (p.Val310Gly)	ENTPD3, ENTPD3-AS1 (V310G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508418	NM_001248.4(ENTPD3):c.1223T>C (p.Leu408Pro)	ENTPD3, ENTPD3-AS1 (L408P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484743	NM_001248.4(ENTPD3):c.573C>G (p.Asn191Lys)	ENTPD3, ENTPD3-AS1 (N191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462356	NM_001248.4(ENTPD3):c.302G>C (p.Ser101Thr)	ENTPD3, ENTPD3-AS1 (S101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455559	NM_001248.4(ENTPD3):c.573C>A (p.Asn191Lys)	ENTPD3-AS1, ENTPD3 (N191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408844	NM_001248.4(ENTPD3):c.1144C>T (p.Leu382Phe)	ENTPD3, ENTPD3-AS1 (L382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347094	NM_001248.4(ENTPD3):c.416C>T (p.Thr139Met)	ENTPD3, ENTPD3-AS1 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327012	NM_001248.4(ENTPD3):c.1462G>A (p.Val488Met)	ENTPD3, ENTPD3-AS1 (V488M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320532	NM_001248.4(ENTPD3):c.1255C>T (p.Arg419Cys)	ENTPD3, ENTPD3-AS1 (R419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288110	NM_001248.4(ENTPD3):c.875G>A (p.Arg292Gln)	ENTPD3, ENTPD3-AS1 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287543	NM_001248.4(ENTPD3):c.202A>G (p.Thr68Ala)	ENTPD3, ENTPD3-AS1 (T68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274201	NM_001248.4(ENTPD3):c.1188G>T (p.Trp396Cys)	ENTPD3, ENTPD3-AS1 (W396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267563	NM_001248.4(ENTPD3):c.80T>G (p.Leu27Trp)	ENTPD3, ENTPD3-AS1 (L27W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2242890	NM_001248.4(ENTPD3):c.1127C>A (p.Thr376Lys)	ENTPD3, ENTPD3-AS1 (T376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226086	NM_001248.4(ENTPD3):c.463G>A (p.Glu155Lys)	ENTPD3, ENTPD3-AS1 (E155K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 1340981	GRCh37/hg19 3p22.1(chr3:40393399-40469114)x1	ENTPD3	Copy number loss	not provided	GLikely benign
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 161579	NM_001248.4(ENTPD3):c.812T>A (p.Phe271Tyr)	ENTPD3, ENTPD3-AS1 (F271Y)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	LOC129936460, LOC129936461 +176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38