"GeneDx"[submitter] AND "TRPM2"[gene] - ClinVar

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Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1244296	NM_003307.4(TRPM2):c.424-269=	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278466	NM_003307.4(TRPM2):c.1014+287C>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287849	NM_003307.4(TRPM2):c.1932+142del	TRPM2	Deletion (intron variant)	not provided	GBenign
Select item 1260754	NM_003307.4(TRPM2):c.1932+140_1932+148del	TRPM2	Deletion (intron variant)	not provided	GBenign
Select item 1277910	NM_003307.4(TRPM2):c.1932+141G>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272765	NM_003307.4(TRPM2):c.1932+151_1932+190del	TRPM2	Deletion (intron variant)	not provided	GBenign
Select item 1281880	NM_003307.4(TRPM2):c.1932+196G>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182960	NM_003307.4(TRPM2):c.1933-10T>C	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294589	NM_003307.4(TRPM2):c.2209-165A>G	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247003	NM_003307.4(TRPM2):c.2322-35T>C	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251349	NM_003307.4(TRPM2):c.2538+14C>T	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237695	NM_003307.4(TRPM2):c.2657+319T>G	LOC126653395, TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283778	NM_003307.4(TRPM2):c.2790+55G>A	LOC126653395, TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274737	NM_003307.4(TRPM2):c.2791-43C>T	LOC126653395, TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265082	NM_003307.4(TRPM2):c.2791-15C>A	LOC126653395, TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263493	NM_003307.4(TRPM2):c.2962+96A>G	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238268	NM_003307.4(TRPM2):c.2962+155A>G	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246156	NM_003307.4(TRPM2):c.2962+304A>T	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268481	NM_003307.4(TRPM2):c.3146+68T>C	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251550	NM_003307.4(TRPM2):c.3146+265A>T	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261780	NM_003307.4(TRPM2):c.3147-20T>C	TRPM2, TRPM2-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245588	NM_003307.4(TRPM2):c.3461+194C>T	TRPM2, TRPM2-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242396	NM_003307.4(TRPM2):c.3550-134C>T	TRPM2, TRPM2-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253641	NM_003307.4(TRPM2):c.3795+97C>T	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232475	NM_003307.4(TRPM2):c.3975-274C>T	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277010	NM_003307.4(TRPM2):c.3975-207G>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268689	NM_003307.4(TRPM2):c.3975-89G>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288360	NM_003307.4(TRPM2):c.4062-330T>C	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253914	NM_003307.4(TRPM2):c.4386+124G>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283082	NM_003307.4(TRPM2):c.*90T>C	TRPM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 34