Related gene-specific medical variations for Gene (Select 29919) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336056	NM_013326.5(RMC1):c.1006+12T>A	NPC1, RMC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3154776	NM_013326.5(RMC1):c.689A>G (p.His230Arg)	LOC126862704, NPC1 +1 more (H230R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154775	NM_013326.5(RMC1):c.57G>T (p.Lys19Asn)	LOC130062286, RMC1 (K19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154774	NM_013326.5(RMC1):c.553G>T (p.Gly185Cys)	NPC1, RMC1 (G185C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154773	NM_013326.5(RMC1):c.542A>G (p.His181Arg)	NPC1, RMC1 (H133R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154772	NM_013326.5(RMC1):c.1451T>C (p.Met484Thr)	LOC126862705, NPC1 +1 more (M436T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154770	NM_013326.5(RMC1):c.1292C>T (p.Ala431Val)	NPC1, RMC1 (A274V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 891596	NM_000271.5(NPC1):c.*494G>T	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 891595	NM_000271.5(NPC1):c.*718C>T	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance
Select item 786337	NM_013326.5(RMC1):c.513G>A (p.Thr171=)	NPC1, RMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781357	NM_013326.5(RMC1):c.1500C>T (p.Tyr500=)	LOC126862705, NPC1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778149	NM_013326.5(RMC1):c.1230C>G (p.Ala410=)	NPC1, RMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734642	NM_013326.5(RMC1):c.653+9G>A	NPC1, RMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730421	NM_013326.5(RMC1):c.1098A>C (p.Ile366=)	NPC1, RMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708242	NM_013326.5(RMC1):c.65C>A (p.Pro22His)	LOC130062286, RMC1 (P22H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 326240	NM_000271.5(NPC1):c.*485dup	NPC1, RMC1	Duplication (3 prime UTR variant)	Niemann-Pick disease, type C	GUncertain significance
Select item 326239	NM_000271.5(NPC1):c.*500A>G	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance