"GeneDx"[submitter] AND "DRP2"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1229685	NM_001939.3(DRP2):c.-63-62G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231812	NM_001939.3(DRP2):c.118-169A>G	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273592	NM_001939.3(DRP2):c.438+9G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275118	NM_001939.3(DRP2):c.560-194dup	DRP2	Duplication (intron variant)	not provided	GBenign
Select item 1237830	NM_001939.3(DRP2):c.560-194T>A	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294655	NM_001939.3(DRP2):c.828+172C>T	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280897	NM_001939.3(DRP2):c.1454+107_1454+109del	DRP2	Deletion (intron variant)	not provided	GBenign
Select item 1265072	NM_001939.3(DRP2):c.1698+48G>C	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241456	NM_001939.3(DRP2):c.1698+147C>G	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266416	NM_001939.3(DRP2):c.1699-25C>G	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281059	NM_001939.3(DRP2):c.2246+199A>G	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278928	NM_001939.3(DRP2):c.2247-9C>T	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252806	NM_001939.3(DRP2):c.2391-113G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260438	NM_001939.3(DRP2):c.2629-52G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180875	NM_001939.3(DRP2):c.2750-154A>G	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294704	NM_001939.3(DRP2):c.*182A>G	DRP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 33