Related gene-specific medical variations for Gene (Select 55823) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188739	NM_021729.6(VPS11):c.100G>T (p.Ala34Ser)	LOC130006887, VPS11 (A34S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3002072	NM_021729.6(VPS11):c.27C>T (p.Arg9=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2981548	NM_021729.6(VPS11):c.6G>A (p.Ala2=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2979904	NM_021729.6(VPS11):c.135C>T (p.Leu45=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2972729	NM_021729.6(VPS11):c.6G>C (p.Ala2=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2966844	NM_021729.6(VPS11):c.30C>T (p.Phe10=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2896867	NM_021729.6(VPS11):c.24G>A (p.Arg8=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2891142	NM_021729.6(VPS11):c.9C>T (p.Ala3=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2847288	NM_021729.6(VPS11):c.108A>T (p.Gly36=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2807972	NM_021729.6(VPS11):c.129T>C (p.Leu43=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2697719	NM_021729.6(VPS11):c.135C>G (p.Leu45=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2441897	NM_021729.6(VPS11):c.976G>A (p.Val326Ile)	VPS11 (V316I +3 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12	GUncertain significance
Select item 2168577	NM_021729.6(VPS11):c.111C>T (p.Ser37=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2065202	NM_021729.6(VPS11):c.13C>T (p.Leu5=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2055756	NM_021729.6(VPS11):c.24G>C (p.Arg8=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2043378	NM_021729.6(VPS11):c.10T>C (p.Tyr4His)	LOC130006886, VPS11 (Y4H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1612557	NM_021729.6(VPS11):c.15G>A (p.Leu5=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1568930	NM_021729.6(VPS11):c.111C>G (p.Ser37=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1479845	NM_021729.6(VPS11):c.30C>A (p.Phe10Leu)	LOC130006886, VPS11 (F10L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1326862	NM_021729.6(VPS11):c.136C>T (p.Pro46Ser)	LOC130006887, VPS11 (P46S)	Single nucleotide variant (5 prime UTR variant +2 more)	Dystonia 32	GPathogenic
Select item 806747	NM_021729.6(VPS11):c.104C>T (p.Ser35Phe)	LOC130006887, VPS11 (S35F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

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Items: 21