PDE4C[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 2649575	NM_001098818.4(PDE4C):c.2025C>T (p.Leu675=)	PDE4C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236858	NM_001098818.4(PDE4C):c.1978G>C (p.Glu660Gln)	PDE4C (E692Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604407	NM_001098818.4(PDE4C):c.1976C>G (p.Thr659Ser)	PDE4C (T691S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210725	NM_001098818.4(PDE4C):c.1882C>A (p.Leu628Met)	PDE4C (L429M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465330	NM_001098818.4(PDE4C):c.1864G>C (p.Asp622His)	PDE4C (D423H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210724	NM_001098818.4(PDE4C):c.1852C>T (p.Arg618Trp)	PDE4C (R618W +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236857	NM_001098818.4(PDE4C):c.1819C>A (p.Pro607Thr)	PDE4C (P408T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292664	NM_001098818.4(PDE4C):c.1808A>G (p.Gln603Arg)	PDE4C (Q529R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305397	NM_001098818.4(PDE4C):c.1718C>T (p.Ala573Val)	PDE4C (A499V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210723	NM_001098818.4(PDE4C):c.1706T>C (p.Ile569Thr)	PDE4C (I569T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373595	NM_001098818.4(PDE4C):c.1705A>G (p.Ile569Val)	PDE4C (I495V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623614	NM_001098818.4(PDE4C):c.1640G>T (p.Gly547Val)	PDE4C (G547V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524036	NM_001098818.4(PDE4C):c.1577G>A (p.Arg526His)	PDE4C (R327H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306512	NM_001098818.4(PDE4C):c.1574A>G (p.Tyr525Cys)	PDE4C (Y326C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404894	NM_001098818.4(PDE4C):c.1474G>A (p.Gly492Ser)	PDE4C (G418S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305396	NM_001098818.4(PDE4C):c.1327G>A (p.Asp443Asn)	PDE4C (D244N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210721	NM_001098818.4(PDE4C):c.1292C>T (p.Ala431Val)	PDE4C (A463V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214596	NM_001098818.4(PDE4C):c.1281C>A (p.Asn427Lys)	PDE4C (N459K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482638	NM_001098818.4(PDE4C):c.1253T>C (p.Met418Thr)	PDE4C (M418T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210720	NM_001098818.4(PDE4C):c.1252A>G (p.Met418Val)	PDE4C (M344V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380805	NM_001098818.4(PDE4C):c.1230C>G (p.Asn410Lys)	PDE4C (N336K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210719	NM_001098818.4(PDE4C):c.1166C>T (p.Ala389Val)	PDE4C (A315V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216701	NM_001098818.4(PDE4C):c.1130T>G (p.Leu377Arg)	PDE4C (L409R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328513	NM_001098818.4(PDE4C):c.1103C>T (p.Thr368Met)	PDE4C (T400M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210718	NM_001098818.4(PDE4C):c.1087G>A (p.Asp363Asn)	PDE4C (D164N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210717	NM_001098818.4(PDE4C):c.1061C>T (p.Ala354Val)	PDE4C (A386V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308373	NM_001098818.4(PDE4C):c.1051G>A (p.Ala351Thr)	PDE4C (A383T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210716	NM_001098818.4(PDE4C):c.1042C>T (p.His348Tyr)	PDE4C (H149Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319831	NM_001098818.4(PDE4C):c.992T>G (p.Phe331Cys)	PDE4C (F257C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210715	NM_001098818.4(PDE4C):c.913G>A (p.Val305Met)	PDE4C (V231M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210730	NM_001098818.4(PDE4C):c.861A>G (p.Gln287=)	PDE4C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2553858	NM_001098818.4(PDE4C):c.802G>T (p.Ala268Ser)	LOC126862877, PDE4C (A69S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711725	NM_001098818.4(PDE4C):c.770G>A (p.Arg257Gln)	LOC126862877, PDE4C (R183Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3210728	NM_001098818.4(PDE4C):c.652G>A (p.Glu218Lys)	LOC126862877, PDE4C (E144K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343359	NM_001098818.4(PDE4C):c.491C>T (p.Pro164Leu)	PDE4C (P164L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305395	NM_001098818.4(PDE4C):c.448A>G (p.Lys150Glu)	PDE4C (K150E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257003	NM_001098818.4(PDE4C):c.415G>T (p.Ala139Ser)	PDE4C (A139S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223975	NM_001098818.4(PDE4C):c.391C>T (p.Arg131Trp)	PDE4C (R131W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730920	NM_001098818.4(PDE4C):c.287A>G (p.Tyr96Cys)	PDE4C (Y22C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3210727	NM_001098818.4(PDE4C):c.258G>T (p.Glu86Asp)	PDE4C (E118D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269506	NM_000923.6(PDE4C):c.241C>G (p.Arg81Gly)	PDE4C (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305394	NM_000923.6(PDE4C):c.181C>G (p.Leu61Val)	PDE4C (L61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210729	NM_000923.6(PDE4C):c.86C>T (p.Pro29Leu)	PDE4C (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544051	NM_000923.6(PDE4C):c.13G>T (p.Gly5Trp)	PDE4C (G5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1526658	GRCh37/hg19 19p13.11(chr19:18327675-18543341)	GDF15, IQCN +6 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 55