NT5DC2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 3202517	NM_001134231.2(NT5DC2):c.1627G>A (p.Gly543Ser)	NT5DC2 (G543S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202515	NM_001134231.2(NT5DC2):c.1583C>T (p.Pro528Leu)	NT5DC2 (P491L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398244	NM_001134231.2(NT5DC2):c.1550G>A (p.Arg517His)	NT5DC2 (R517H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202513	NM_001134231.2(NT5DC2):c.1399C>T (p.Arg467Trp)	NT5DC2 (R467W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382406	NM_001134231.2(NT5DC2):c.1391T>A (p.Met464Lys)	NT5DC2 (M427K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464036	NM_001134231.2(NT5DC2):c.1375G>T (p.Val459Leu)	NT5DC2 (V459L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202512	NM_001134231.2(NT5DC2):c.1262G>A (p.Arg421His)	NT5DC2 (R384H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202511	NM_001134231.2(NT5DC2):c.1248C>G (p.Ile416Met)	NT5DC2 (I379M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398439	NM_001134231.2(NT5DC2):c.1241C>T (p.Ala414Val)	NT5DC2 (A414V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597269	NM_001134231.2(NT5DC2):c.1225G>T (p.Gly409Cys)	NT5DC2 (G372C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400142	NM_001134231.2(NT5DC2):c.1213A>T (p.Met405Leu)	NT5DC2 (M405L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319538	NM_001134231.2(NT5DC2):c.1168G>A (p.Val390Met)	NT5DC2 (V353M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202509	NM_001134231.2(NT5DC2):c.1165C>T (p.Arg389Cys)	NT5DC2 (R352C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407327	NM_001134231.2(NT5DC2):c.1156C>T (p.Arg386Cys)	NT5DC2 (R349C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595937	NM_001134231.2(NT5DC2):c.1141C>T (p.Arg381Cys)	NT5DC2 (R344C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554002	NM_001134231.2(NT5DC2):c.1081C>T (p.Arg361Trp)	NT5DC2 (R361W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389034	NM_001134231.2(NT5DC2):c.973C>T (p.Arg325Cys)	NT5DC2 (R288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202522	NM_001134231.2(NT5DC2):c.955A>G (p.Met319Val)	NT5DC2 (M319V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388293	NM_001134231.2(NT5DC2):c.807G>A (p.Met269Ile)	NT5DC2 (M232I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261732	NM_001134231.2(NT5DC2):c.725G>C (p.Gly242Ala)	NT5DC2 (G205A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653897	NM_001134231.2(NT5DC2):c.678G>A (p.Ser226=)	NT5DC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295860	NM_001134231.2(NT5DC2):c.547A>G (p.Arg183Gly)	NT5DC2 (R183G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202520	NM_001134231.2(NT5DC2):c.538A>G (p.Thr180Ala)	NT5DC2 (T180A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251279	NM_001134231.2(NT5DC2):c.536G>T (p.Gly179Val)	NT5DC2 (G142V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246302	NM_001134231.2(NT5DC2):c.524A>G (p.Tyr175Cys)	NT5DC2 (Y138C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653898	NM_001134231.2(NT5DC2):c.483C>T (p.Asp161=)	NT5DC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472450	NM_001134231.2(NT5DC2):c.470G>T (p.Gly157Val)	NT5DC2 (G120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458833	NM_001134231.2(NT5DC2):c.434G>A (p.Arg145Gln)	NT5DC2 (R108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243587	NM_001134231.2(NT5DC2):c.392G>A (p.Arg131His)	NT5DC2 (R131H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599696	NM_001134231.2(NT5DC2):c.373G>A (p.Glu125Lys)	NT5DC2 (E125K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455218	NM_001134231.2(NT5DC2):c.283G>A (p.Ala95Thr)	NT5DC2 (A95T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480998	NM_001134231.2(NT5DC2):c.244C>A (p.Pro82Thr)	NT5DC2 (P45T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373219	NM_001134231.2(NT5DC2):c.188C>G (p.Ala63Gly)	LOC129936865, NT5DC2 (A63G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250189	NM_001134231.2(NT5DC2):c.179A>C (p.Asp60Ala)	LOC129936865, NT5DC2 (D60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457581	NM_001134231.2(NT5DC2):c.121G>C (p.Ala41Pro)	LOC129936865, NT5DC2 (A41P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202521	NM_001134231.2(NT5DC2):c.76T>C (p.Ser26Pro)	LOC129936865, NT5DC2 (S26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258701	NM_001134231.2(NT5DC2):c.32G>T (p.Arg11Leu)	NT5DC2 (R11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202518	NM_001134231.2(NT5DC2):c.31C>G (p.Arg11Gly)	NT5DC2 (R11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202514	NM_001134231.2(NT5DC2):c.13G>A (p.Gly5Arg)	NT5DC2 (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202508	NM_022908.3(NT5DC2):c.108C>A (p.Asn36Lys)	NT5DC2 (N36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 52