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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1225301	NM_007166.4(PICALM):c.1945-284_1945-283del	PICALM	Deletion (intron variant)	not provided	GBenign
Select item 1272654	NM_007166.4(PICALM):c.1944+177G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261860	NM_007166.4(PICALM):c.1840-241A>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261536	NM_007166.4(PICALM):c.1840-296T>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252751	NM_007166.4(PICALM):c.1780-1710A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233368	NM_007166.4(PICALM):c.1779+111T>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403297	NM_007166.4(PICALM):c.1770T>G (p.Ala590=)	PICALM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1174406	NM_007166.4(PICALM):c.1680-71T>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230276	NM_007166.4(PICALM):c.1517-307G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230620	NM_007166.4(PICALM):c.1516+301T>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263630	NM_007166.4(PICALM):c.1259-180A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261023	NM_007166.4(PICALM):c.1259-299A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234320	NM_007166.4(PICALM):c.894-236A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279148	NM_007166.4(PICALM):c.894-306A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266957	NM_007166.4(PICALM):c.893+121A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242599	NM_007166.4(PICALM):c.808-111A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403298	NM_007166.4(PICALM):c.766-15A>G	PICALM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1286225	NM_007166.4(PICALM):c.766-37T>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267376	NM_007166.4(PICALM):c.766-190G>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261641	NM_007166.4(PICALM):c.659-68dup	PICALM	Duplication (intron variant)	not provided	GBenign
Select item 1174456	NM_007166.4(PICALM):c.658+197G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251482	NM_007166.4(PICALM):c.547-92G>A	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403299	NM_007166.4(PICALM):c.522G>A (p.Gln174=)	PICALM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1295088	NM_007166.4(PICALM):c.453-288A>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286299	NM_007166.4(PICALM):c.452+345T>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251190	NM_007166.4(PICALM):c.452+302A>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244659	NM_007166.4(PICALM):c.350-217A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228575	NM_007166.4(PICALM):c.350-304_350-303insAT	PICALM	Insertion (intron variant)	not provided	GBenign
Select item 1294729	NM_007166.4(PICALM):c.349+269G>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231235	NM_007166.4(PICALM):c.349+205A>G	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228468	NM_007166.4(PICALM):c.274-93T>C	PICALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283578	NM_007166.4(PICALM):c.273+293del	PICALM	Deletion (intron variant)	not provided	GBenign
Select item 1232582	NM_001206947.2(PICALM):c.-24+314A>G	PICALM, LOC126861284	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 36