PDCD7[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 2246870	NM_005707.2(PDCD7):c.1441G>C (p.Ala481Pro)	PDCD7 (A481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490594	NM_005707.2(PDCD7):c.1412C>A (p.Pro471Gln)	PDCD7 (P471Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305324	NM_005707.2(PDCD7):c.1408C>T (p.Pro470Ser)	PDCD7 (P470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309079	NM_005707.2(PDCD7):c.1397G>A (p.Gly466Glu)	PDCD7 (G466E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338041	NM_005707.2(PDCD7):c.1376A>G (p.Lys459Arg)	PDCD7 (K459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239470	NM_005707.2(PDCD7):c.1294C>T (p.Leu432Phe)	PDCD7 (L432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551206	NM_005707.2(PDCD7):c.1248T>G (p.Asp416Glu)	PDCD7 (D416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608291	NM_005707.2(PDCD7):c.1240G>C (p.Asp414His)	PDCD7 (D414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232549	NM_005707.2(PDCD7):c.1061G>A (p.Arg354Gln)	PDCD7 (R354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622693	NM_005707.2(PDCD7):c.998C>T (p.Ala333Val)	PDCD7 (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550130	NM_005707.2(PDCD7):c.932A>T (p.Asp311Val)	PDCD7 (D311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317060	NM_005707.2(PDCD7):c.797G>A (p.Arg266Gln)	PDCD7 (R266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539337	NM_005707.2(PDCD7):c.751G>A (p.Glu251Lys)	PDCD7 (E251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611179	NM_005707.2(PDCD7):c.727C>T (p.Arg243Trp)	LOC130057312, PDCD7 (R243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548799	NM_005707.2(PDCD7):c.722G>C (p.Arg241Thr)	LOC130057312, PDCD7 (R241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213422	NM_005707.2(PDCD7):c.713G>A (p.Arg238Lys)	LOC130057312, PDCD7 (R238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555912	NM_005707.2(PDCD7):c.692A>G (p.Tyr231Cys)	LOC130057312, PDCD7 (Y231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210598	NM_005707.2(PDCD7):c.592G>A (p.Ala198Thr)	LOC130057312, PDCD7 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256464	NM_005707.2(PDCD7):c.539G>A (p.Arg180Gln)	LOC130057312, PDCD7 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370805	NM_005707.2(PDCD7):c.467G>A (p.Arg156Gln)	LOC130057312, PDCD7 (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599321	NM_005707.2(PDCD7):c.400G>T (p.Gly134Trp)	LOC130057312, PDCD7 (G134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614387	NM_005707.2(PDCD7):c.374C>T (p.Ala125Val)	LOC130057312, PDCD7 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598299	NM_005707.2(PDCD7):c.358C>T (p.Pro120Ser)	LOC130057312, PDCD7 (P120S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210597	NM_005707.2(PDCD7):c.343G>A (p.Gly115Arg)	PDCD7 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386840	NM_005707.2(PDCD7):c.329C>A (p.Pro110Gln)	PDCD7 (P110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205757	NM_005707.2(PDCD7):c.313G>A (p.Glu105Lys)	PDCD7 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338753	NM_005707.2(PDCD7):c.289C>T (p.Pro97Ser)	PDCD7 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342874	NM_005707.2(PDCD7):c.241T>C (p.Tyr81His)	LOC130057313, PDCD7 (Y81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365467	NM_005707.2(PDCD7):c.193C>G (p.Arg65Gly)	LOC130057313, PDCD7 (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622590	NM_005707.2(PDCD7):c.181G>A (p.Ala61Thr)	LOC130057313, PDCD7 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270527	NM_005707.2(PDCD7):c.176C>T (p.Pro59Leu)	LOC130057313, PDCD7 (P59L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2547320	NM_005707.2(PDCD7):c.160C>G (p.Pro54Ala)	LOC130057313, PDCD7 (P54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552160	NM_005707.2(PDCD7):c.76G>C (p.Gly26Arg)	PDCD7 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305328	NM_005707.2(PDCD7):c.67G>C (p.Ala23Pro)	PDCD7 (A23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524628	NM_005707.2(PDCD7):c.56C>T (p.Pro19Leu)	PDCD7 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305326	NM_005707.2(PDCD7):c.46C>A (p.Pro16Thr)	PDCD7 (P16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305327	NM_005707.2(PDCD7):c.44C>T (p.Pro15Leu)	PDCD7 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618021	NM_005707.2(PDCD7):c.11C>T (p.Pro4Leu)	PDCD7 (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685962	GRCh37/hg19 15q22.31(chr15:65258439-65742148)x3	RNU5A-1, SLC51B +12 more	Copy number gain	not provided	GUncertain significance
Select item 685961	GRCh37/hg19 15q22.31(chr15:65258583-65742148)x3	RASL12, RNU5A-1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52