"GeneDx"[submitter] AND "VPS41"[gene] - ClinVar

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Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 1285662	NM_014396.4(VPS41):c.*121A>G	VPS41	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259616	NM_014396.4(VPS41):c.*61A>G	VPS41	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1279808	NM_014396.4(VPS41):c.2484+160G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282659	NM_014396.4(VPS41):c.2405-176T>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444671	NM_014396.4(VPS41):c.2359+6T>G	VPS41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1230897	NM_014396.4(VPS41):c.2123-101G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273716	NM_014396.4(VPS41):c.2123-129A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273568	NM_014396.4(VPS41):c.2123-133A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239138	NM_014396.4(VPS41):c.2123-196C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224190	NM_014396.4(VPS41):c.2122+105T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245939	NM_014396.4(VPS41):c.2122+97G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239332	NM_014396.4(VPS41):c.2122+58T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263393	NM_014396.4(VPS41):c.2122+51C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250671	NM_014396.4(VPS41):c.1981+97C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278360	NM_014396.4(VPS41):c.1563C>T (p.Asp521=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288943	NM_014396.4(VPS41):c.1551-166G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280860	NM_014396.4(VPS41):c.1550+133C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225371	NM_014396.4(VPS41):c.1329+174_1329+175insC	VPS41	Insertion (intron variant)	not provided	GBenign
Select item 1227656	NM_014396.4(VPS41):c.1329+100del	VPS41	Deletion (intron variant)	not provided	GBenign
Select item 1260776	NM_014396.4(VPS41):c.1294G>A (p.Glu432Lys)	VPS41 (E407K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3378194	NM_014396.4(VPS41):c.1176_1177del (p.His392fs)	VPS41 (H367fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1229328	NM_014396.4(VPS41):c.1129-40dup	VPS41	Duplication (intron variant)	not provided	GBenign
Select item 1273168	NM_014396.4(VPS41):c.1128+54_1128+57del	VPS41	Deletion (intron variant)	not provided	GBenign
Select item 1227386	NM_014396.4(VPS41):c.1012+125T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260450	NM_014396.4(VPS41):c.1012+118C>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235181	NM_014396.4(VPS41):c.1012+50del	VPS41	Deletion (intron variant)	not provided	GBenign
Select item 1231650	NM_014396.4(VPS41):c.1012+38A>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178944	NM_014396.4(VPS41):c.1012+4G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249481	NM_014396.4(VPS41):c.883-198A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272913	NM_014396.4(VPS41):c.882+167C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257590	NM_014396.4(VPS41):c.785-65T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183416	NM_014396.4(VPS41):c.785-111C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260173	NM_014396.4(VPS41):c.784+54G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250036	NM_014396.4(VPS41):c.720G>A (p.Val240=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235994	NM_014396.4(VPS41):c.717+197G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181871	NM_014396.4(VPS41):c.717+30G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220843	NM_014396.4(VPS41):c.450+53C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242980	NM_014396.4(VPS41):c.384+166A>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502449	NM_014396.4(VPS41):c.368T>C (p.Phe123Ser)	VPS41 (F123S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1280186	NM_014396.4(VPS41):c.322-68T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246828	NM_014396.4(VPS41):c.322-118C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278387	NM_014396.4(VPS41):c.321+146G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179629	NM_014396.4(VPS41):c.247-174C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228208	NM_014396.4(VPS41):c.168+124C>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698322	NM_014396.4(VPS41):c.61-1G>A	VPS41	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1276064	NM_014396.4(VPS41):c.61-23A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240634	NM_014396.4(VPS41):c.21+159G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 49