MOB3C[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2600755	NM_201403.3(MOB3C):c.641T>A (p.Ile214Asn)	MOB3C (I214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187282	NM_201403.3(MOB3C):c.638G>A (p.Arg213Gln)	MOB3C (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226381	NM_201403.3(MOB3C):c.605G>A (p.Arg202Gln)	MOB3C (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187224	NM_201403.3(MOB3C):c.604C>T (p.Arg202Trp)	MOB3C (R202W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187189	NM_201403.3(MOB3C):c.578T>G (p.Ile193Ser)	MOB3C (I193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187163	NM_201403.3(MOB3C):c.526A>G (p.Met176Val)	MOB3C (M176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187130	NM_201403.3(MOB3C):c.469C>T (p.Arg157Cys)	MOB3C (R157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247810	NM_201403.3(MOB3C):c.459G>T (p.Lys153Asn)	MOB3C (K153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618103	NM_201403.3(MOB3C):c.394G>A (p.Glu132Lys)	MOB3C (E132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292558	NM_201403.3(MOB3C):c.376G>A (p.Glu126Lys)	MOB3C (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187032	NM_201403.3(MOB3C):c.368A>G (p.Asp123Gly)	MOB3C (D123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206673	NM_201403.3(MOB3C):c.367G>C (p.Asp123His)	MOB3C (D123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186979	NM_201403.3(MOB3C):c.366G>T (p.Met122Ile)	MOB3C (M122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186950	NM_201403.3(MOB3C):c.347G>A (p.Arg116His)	MOB3C (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472309	NM_201403.3(MOB3C):c.289G>C (p.Glu97Gln)	MOB3C (E97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186893	NM_201403.3(MOB3C):c.220A>G (p.Ile74Val)	MOB3C (I74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389373	NM_201403.3(MOB3C):c.207C>G (p.Asn69Lys)	MOB3C (N69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457876	NM_201403.3(MOB3C):c.187C>T (p.His63Tyr)	MOB3C (H63Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186788	NM_201403.3(MOB3C):c.112C>T (p.Leu38Phe)	MOB3C (L38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263519	NM_201403.3(MOB3C):c.79C>T (p.Arg27Cys)	MOB3C (R27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486048	NM_201403.3(MOB3C):c.78G>C (p.Gln26His)	MOB3C (Q26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486047	NM_201403.3(MOB3C):c.77A>C (p.Gln26Pro)	MOB3C (Q26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591227	NM_201403.3(MOB3C):c.58C>T (p.Arg20Cys)	MOB3C (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376554	NM_201403.3(MOB3C):c.28G>C (p.Ala10Pro)	MOB3C (A10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186640	NM_201403.3(MOB3C):c.22G>C (p.Val8Leu)	MOB3C (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399641	NM_201403.3(MOB3C):c.-50-1647G>C	MOB3C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 816515	GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3	UQCRH, DMBX1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	RAD54L, TSPAN1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 35