"GeneDx"[submitter] AND "PDE1A"[gene] - ClinVar

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Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 58811	GRCh38/hg38 2q31.3-32.1(chr2:181491072-182559009)x1	CERKL, ITGA4 +20 more	Copy number loss	See cases	GPathogenic
Select item 1238921	NM_001363871.4(PDE1A):c.1516+17841A>G	PDE1A	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1268286	NM_001363871.4(PDE1A):c.1516+17598del	PDE1A	Deletion (intron variant)	not provided	GBenign
Select item 1258905	NM_001363871.4(PDE1A):c.1516+17417T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267048	NM_001363871.4(PDE1A):c.1329-157G>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239898	NM_001363871.4(PDE1A):c.1208-106T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253451	NM_001363871.4(PDE1A):c.1208-134A>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289577	NM_001363871.4(PDE1A):c.1207+62A>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291679	NM_001363871.4(PDE1A):c.1207+48G>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284004	NM_001363871.4(PDE1A):c.1004+33_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1265372	NM_001363871.4(PDE1A):c.1004+32_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1238438	NM_001363871.4(PDE1A):c.1004+35_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1233623	NM_001363871.4(PDE1A):c.1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1231444	NM_001363871.4(PDE1A):c.1004+36_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1226653	NM_001363871.4(PDE1A):c.1004+24G>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178442	NM_001363871.4(PDE1A):c.902+87C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283548	NM_001363871.4(PDE1A):c.902+48T>A	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237696	NM_001363871.4(PDE1A):c.777-119C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236025	NM_001363871.4(PDE1A):c.776+7C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287772	NM_001363871.4(PDE1A):c.675+224_675+225insAG	PDE1A	Insertion (intron variant)	not provided	GBenign
Select item 1224772	NM_001363871.4(PDE1A):c.675+225del	PDE1A	Deletion (intron variant)	not provided	GBenign
Select item 1233910	NM_001363871.4(PDE1A):c.675+60T>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269975	NM_001363871.4(PDE1A):c.534+233T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238917	NM_001363871.4(PDE1A):c.168-1408G>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229626	NM_001363871.4(PDE1A):c.168-1739A>C	PDE1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252654	NM_001363871.4(PDE1A):c.168-1806A>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243990	NM_001363871.4(PDE1A):c.168-1978C>A	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265090	NM_001363871.4(PDE1A):c.167+202A>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243837	NM_001363871.4(PDE1A):c.54-8dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1238581	NM_001363871.4(PDE1A):c.54-101T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238159	NM_005019.7(PDE1A):c.101+113C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259379	NC_000002.12:g.182522885T>C	PDE1A	Single nucleotide variant	not provided	GBenign

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Items: 35