PDCD2[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	LOC113174973, LOC116183078 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	LOC129997712, LOC129997713 +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	LOC129997709, LOC129997710 +297 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	AFDN, AFDN-DT +247 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +243 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +224 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	LOC129997705, LOC129997706 +203 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +168 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	LOC126859904, LOC126859905 +112 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 151758	GRCh38/hg38 6q27(chr6:168581259-170610394)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 148570	GRCh38/hg38 6q27(chr6:168802993-170714507)x1	C6orf120, DLL1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 148678	GRCh38/hg38 6q27(chr6:168881467-170602152)x1	C6orf120, DLL1 +56 more	Copy number loss	See cases	GPathogenic
Select item 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 57021	GRCh38/hg38 6q27(chr6:169441378-170612001)x1	C6orf120, DLL1 +40 more	Copy number loss	See cases	GPathogenic
Select item 57508	GRCh38/hg38 6q27(chr6:169641704-170612001)x1	C6orf120, DLL1 +37 more	Copy number loss	See cases	GPathogenic
Select item 147670	GRCh38/hg38 6q27(chr6:169688809-170583214)x1	C6orf120, DLL1 +34 more	Copy number loss	See cases	GPathogenic
Select item 150245	GRCh38/hg38 6q27(chr6:170014772-170714507)x1	DLL1, FAM120B +22 more	Copy number loss	See cases	GUncertain significance
Select item 153688	GRCh38/hg38 6q27(chr6:170187559-170610394)x3	DLL1, FAM120B +17 more	Copy number gain	See cases	GUncertain significance
Select item 148324	GRCh38/hg38 6q27(chr6:170210927-170714507)x1	DLL1, FAM120B +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 148348	GRCh38/hg38 6q27(chr6:170257060-170714507)x1	DLL1, FAM120B +18 more	Copy number loss	See cases	GUncertain significance
Select item 57071	GRCh38/hg38 6q27(chr6:170471093-170583214)x3	LOC108663996, LOC126859915 +5 more	Copy number gain	See cases	GUncertain significance
Select item 154712	GRCh38/hg38 6q27(chr6:170523344-170602152)x3	LOC108663996, LOC129997715 +5 more	Copy number gain	See cases	GBenign
Select item 57414	GRCh38/hg38 6q27(chr6:170538168-170612001)x3	LOC108663996, LOC129997715 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2222320	NM_002598.4(PDCD2):c.1031C>T (p.Pro344Leu)	PDCD2 (P344L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332157	NM_002598.4(PDCD2):c.1001T>G (p.Phe334Cys)	PDCD2 (F301C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328265	NM_002598.4(PDCD2):c.959G>A (p.Cys320Tyr)	PDCD2 (C287Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613914	NM_002598.4(PDCD2):c.880A>T (p.Met294Leu)	PDCD2 (M261L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268177	NM_002598.4(PDCD2):c.808G>A (p.Glu270Lys)	PDCD2 (E237K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287743	NM_002598.4(PDCD2):c.761A>G (p.Gln254Arg)	PDCD2 (Q221R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597251	NM_002598.4(PDCD2):c.562C>T (p.Leu188Phe)	PDCD2 (L155F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347130	NM_002598.4(PDCD2):c.262C>T (p.Pro88Ser)	PDCD2 (P55S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709116	NM_002598.4(PDCD2):c.216G>A (p.Pro72=)	PDCD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784105	NM_002598.4(PDCD2):c.206C>G (p.Pro69Arg)	LOC129997717, PDCD2 (P36R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2246500	NM_002598.4(PDCD2):c.139C>G (p.Gln47Glu)	LOC129997717, PDCD2 (Q47E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230433	NM_002598.4(PDCD2):c.113T>G (p.Leu38Arg)	LOC129997717, PDCD2 (L38R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696215	NM_002598.4(PDCD2):c.101G>C (p.Arg34Pro)	LOC129997717, PDCD2 (R34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696216	NM_002598.4(PDCD2):c.82C>T (p.Pro28Ser)	LOC129997717, PDCD2 (P28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062904	GRCh37/hg19 6q27(chr6:170158867-170919482)x1	DLL1, ERMARD +4 more	Copy number loss	not specified	GLikely pathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685226	GRCh37/hg19 6q27(chr6:170808082-170919482)x1	PDCD2, PSMB1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685224	GRCh37/hg19 6q27(chr6:170466312-170919482)x1	DLL1, FAM120B +3 more	Copy number loss	not provided	GPathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	PDCD2, PDE10A +31 more	Copy number loss	not provided	GPathogenic
Select item 1711162	GRCh37/hg19 6q27(chr6:170657577-170919482)x1	FAM120B, PDCD2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1711095	GRCh37/hg19 6q27(chr6:168552894-170919482)x1	C6orf120, DACT2 +11 more	Copy number loss	See cases	GPathogenic
Select item 1706509	GRCh37/hg19 6q27(chr6:167770398-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703662	GRCh37/hg19 6q27(chr6:168643852-170919482)	C6orf120, DACT2 +11 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1527330	GRCh37/hg19 6q27(chr6:170262214-170919482)	DLL1, FAM120B +3 more	Copy number loss	not specified	GPathogenic
Select item 1527329	GRCh37/hg19 6q27(chr6:170230181-170919482)	DLL1, FAM120B +3 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340986	GRCh37/hg19 6q27(chr6:168939661-170919482)x1	C6orf120, DLL1 +10 more	Copy number loss	not provided	GPathogenic
Select item 1340090	GRCh37/hg19 6q27(chr6:168051206-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	not provided	GPathogenic
Select item 1330195	GRCh37/hg19 6q27(chr6:169830713-171022896)x1	C6orf120, DLL1 +8 more	Copy number loss	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 979749	GRCh37/hg19 6q27(chr6:167580012-170919482)x1	AFDN, C6orf120 +17 more	Copy number loss	not provided	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 814909	GRCh37/hg19 6q27(chr6:170331096-170919482)x1	PSMB1, PDCD2 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 814908	GRCh37/hg19 6q27(chr6:170136337-170919482)x1	PSMB1, DLL1 +5 more	Copy number loss	not provided	GPathogenic
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 685152	GRCh37/hg19 6q27(chr6:170653923-170919482)x3	FAM120B, PDCD2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563263	GRCh37/hg19 6q27(chr6:170331096-170894127)x3	TBP, PDCD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563258	GRCh37/hg19 6q27(chr6:167388817-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 560073	Single allele	DLL1, FAM120B +3 more	Duplication	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 221817	GRCh37/hg19 6q27(chr6:170713690-170890384)x3	FAM120B, PDCD2 +2 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic

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Items: 100