"Ambry Genetics"[submitter] AND "MVB12A"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271698	NM_138401.4(MVB12A):c.41G>A (p.Gly14Asp)	LOC130063939, MVB12A (G14D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604785	NM_138401.4(MVB12A):c.86G>A (p.Ser29Asn)	LOC130063939, MVB12A (S29N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386381	NM_138401.4(MVB12A):c.88G>C (p.Ala30Pro)	LOC130063939, MVB12A (A30P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376544	NM_138401.4(MVB12A):c.140C>T (p.Ala47Val)	LOC130063939, MVB12A (A47V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243941	NM_138401.4(MVB12A):c.222G>C (p.Gln74His)	MVB12A (Q74H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619194	NM_138401.4(MVB12A):c.277A>G (p.Met93Val)	MVB12A (M93V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374737	NM_138401.4(MVB12A):c.350C>T (p.Thr117Met)	MVB12A (T117M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2405295	NM_138401.4(MVB12A):c.367C>T (p.Arg123Trp)	MVB12A (R123W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307854	NM_138401.4(MVB12A):c.377G>A (p.Gly126Glu)	MVB12A (G126E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619668	NM_138401.4(MVB12A):c.467T>G (p.Val156Gly)	MVB12A (V156G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253763	NM_138401.4(MVB12A):c.479G>A (p.Arg160Gln)	MVB12A (R160Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515571	NM_138401.4(MVB12A):c.498G>T (p.Met166Ile)	MVB12A (M74I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348091	NM_138401.4(MVB12A):c.503G>T (p.Gly168Val)	MVB12A (G76V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260863	NM_138401.4(MVB12A):c.530C>T (p.Pro177Leu)	MVB12A (P177L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480253	NM_138401.4(MVB12A):c.598A>T (p.Asn200Tyr)	MVB12A (N108Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459791	NM_138401.4(MVB12A):c.674G>A (p.Arg225Gln)	MVB12A (R133Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262353	NM_138401.4(MVB12A):c.751G>A (p.Glu251Lys)	MVB12A (E159K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343156	NM_138401.4(MVB12A):c.775G>A (p.Val259Met)	MVB12A (V167M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343737	NM_138401.4(MVB12A):c.808C>G (p.Pro270Ala)	MVB12A (P270A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance