PDCD6IP[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 57770	GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1	ARPP21, ARPP21-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 2617829	NM_013374.6(PDCD6IP):c.33G>T (p.Lys11Asn)	PDCD6IP (K11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532619	NM_013374.6(PDCD6IP):c.61C>G (p.Leu21Val)	PDCD6IP (L21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210595	NM_013374.6(PDCD6IP):c.79C>G (p.Gln27Glu)	PDCD6IP (Q27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706482	NM_013374.6(PDCD6IP):c.154_158dup (p.Val54fs)	PDCD6IP (V54fs)	Microsatellite (frameshift variant)	Microcephaly 29, primary, autosomal recessive	GPathogenic
Select item 3210589	NM_013374.6(PDCD6IP):c.193C>A (p.Leu65Ile)	PDCD6IP (L65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600159	NM_013374.6(PDCD6IP):c.232A>G (p.Ile78Val)	PDCD6IP (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608215	NM_013374.6(PDCD6IP):c.529G>A (p.Val177Met)	PDCD6IP (V177M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597598	NM_013374.6(PDCD6IP):c.564T>G (p.Ser188Arg)	PDCD6IP (S188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210593	NM_013374.6(PDCD6IP):c.603A>T (p.Leu201Phe)	PDCD6IP (L201F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313430	NM_013374.6(PDCD6IP):c.855A>C (p.Lys285Asn)	PDCD6IP (K285N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305318	NM_013374.6(PDCD6IP):c.914A>T (p.Asn305Ile)	PDCD6IP (N310I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253185	NM_013374.6(PDCD6IP):c.940G>A (p.Asp314Asn)	PDCD6IP (D319N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331071	NM_013374.6(PDCD6IP):c.1074G>A (p.Met358Ile)	PDCD6IP (M358I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210586	NM_013374.6(PDCD6IP):c.1264A>G (p.Arg422Gly)	PDCD6IP (R422G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604365	NM_013374.6(PDCD6IP):c.1279C>A (p.Gln427Lys)	PDCD6IP (Q427K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305317	NM_013374.6(PDCD6IP):c.1280A>G (p.Gln427Arg)	PDCD6IP (Q432R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777771	NM_013374.6(PDCD6IP):c.1285G>A (p.Gly429Ser)	PDCD6IP (G434S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2553043	NM_013374.6(PDCD6IP):c.1393G>A (p.Asp465Asn)	PDCD6IP (D470N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305315	NM_013374.6(PDCD6IP):c.1523A>G (p.Gln508Arg)	PDCD6IP (Q513R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305316	NM_013374.6(PDCD6IP):c.1683A>C (p.Glu561Asp)	PDCD6IP (E561D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355440	NM_013374.6(PDCD6IP):c.1772A>G (p.Asp591Gly)	PDCD6IP (D591G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210587	NM_013374.6(PDCD6IP):c.1808A>G (p.Glu603Gly)	PDCD6IP (E603G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305320	NM_013374.6(PDCD6IP):c.1840A>G (p.Lys614Glu)	PDCD6IP (K614E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380938	NM_013374.6(PDCD6IP):c.1970C>T (p.Ala657Val)	PDCD6IP (A662V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391309	NM_013374.6(PDCD6IP):c.1985A>G (p.Asn662Ser)	PDCD6IP (N667S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357403	NM_013374.6(PDCD6IP):c.2155G>A (p.Ala719Thr)	PDCD6IP (A724T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524698	NM_013374.6(PDCD6IP):c.2173C>G (p.Pro725Ala)	PDCD6IP (P725A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228740	NM_013374.6(PDCD6IP):c.2177C>T (p.Ala726Val)	PDCD6IP (A726V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720845	NM_013374.6(PDCD6IP):c.2178G>A (p.Ala726=)	PDCD6IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3210590	NM_013374.6(PDCD6IP):c.2191C>T (p.Pro731Ser)	PDCD6IP (P731S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305323	NM_013374.6(PDCD6IP):c.2207C>G (p.Ala736Gly)	PDCD6IP (A736G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305319	NM_013374.6(PDCD6IP):c.2222C>G (p.Thr741Ser)	PDCD6IP (T741S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709749	NM_013374.6(PDCD6IP):c.2247T>C (p.Pro749=)	PDCD6IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2295282	NM_013374.6(PDCD6IP):c.2291C>T (p.Pro764Leu)	PDCD6IP (P764L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369499	NM_013374.6(PDCD6IP):c.2329G>T (p.Val777Leu)	PDCD6IP (V777L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767892	NM_013374.6(PDCD6IP):c.2333G>C (p.Gly778Ala)	PDCD6IP (G778A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782423	NM_013374.6(PDCD6IP):c.2367G>A (p.Thr789=)	PDCD6IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3305314	NM_013374.6(PDCD6IP):c.2384C>T (p.Pro795Leu)	PDCD6IP (P800L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305322	NM_013374.6(PDCD6IP):c.2390A>G (p.Gln797Arg)	PDCD6IP (Q797R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599128	NM_013374.6(PDCD6IP):c.2393C>T (p.Ala798Val)	PDCD6IP (A803V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313915	NM_013374.6(PDCD6IP):c.2405C>A (p.Pro802His)	PDCD6IP (P802H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520273	NM_013374.6(PDCD6IP):c.2455A>G (p.Met819Val)	PDCD6IP (M819V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210591	NM_013374.6(PDCD6IP):c.2534C>T (p.Pro845Leu)	PDCD6IP (P845L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605612	NM_013374.6(PDCD6IP):c.2543G>A (p.Gly848Glu)	PDCD6IP (G853E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305321	NM_013374.6(PDCD6IP):c.2555C>T (p.Pro852Leu)	PDCD6IP (P852L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210592	NM_013374.6(PDCD6IP):c.2591A>C (p.Tyr864Ser)	PDCD6IP (Y864S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685913	GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3	CCR4, CLASP2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527006	GRCh37/hg19 3p22.3(chr3:32699328-35286114)	CCR4, CLASP2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 814432	GRCh37/hg19 3p22.3(chr3:33693029-34652201)x1	PDCD6IP, CLASP2	Copy number loss	not provided	GUncertain significance
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 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

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Items: 65