ClinVar for MedGen (Select 934640) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359225	NM_024298.5(MBOAT7):c.724C>T (p.Arg242Cys)	MBOAT7 (R169C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 3359224	NM_024298.5(MBOAT7):c.1148_1166dup (p.Gly390fs)	MBOAT7 (G317fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 3338607	NM_024298.5(MBOAT7):c.493+1G>T	MBOAT7	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 2583119	NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)	MBOAT7 (Y357* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 1706446	NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)	MBOAT7 (G129R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1675309	NM_024298.5(MBOAT7):c.971_985del (p.Val324_Leu328del)	MBOAT7	Deletion (inframe_deletion)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1675308	NM_024298.5(MBOAT7):c.497C>T (p.Pro166Leu)	MBOAT7 (P166L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1333419	NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)	MBOAT7 (R198fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 1328055	NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)	MBOAT7 (E180K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 1325569	NM_024298.5(MBOAT7):c.1361_1382del (p.Arg454fs)	MBOAT7 (R381fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1324698	NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)	MBOAT7 (P36L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 1285426	NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)	MBOAT7 (R87*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 57 +1 more	GConflicting classifications of pathogenicity
Select item 1190073	NM_024298.5(MBOAT7):c.-1587C>G	MBOAT7, TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 57 +1 more	GLikely benign
Select item 1189642	NM_024298.5(MBOAT7):c.823G>A (p.Gly275Ser)	MBOAT7 (G202S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57 +1 more	GUncertain significance
Select item 1184283	NM_024298.5(MBOAT7):c.763G>A (p.Gly255Ser)	MBOAT7 (G182S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1120120	NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)	MBOAT7 (L158fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GPathogenic/Likely pathogenic
Select item 1033623	NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu)	MBOAT7 (V313L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1033622	NM_024298.5(MBOAT7):c.854+8G>A	MBOAT7	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1033621	NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala)	MBOAT7 (P210A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1033619	NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu)	MBOAT7 (K383E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57 +1 more	GUncertain significance
Select item 1033618	NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr)	MBOAT7 (M337T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1028299	NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met)	MBOAT7 (T250M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1028298	NM_024298.5(MBOAT7):c.849C>G (p.Pro283=)	MBOAT7	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1028297	NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro)	MBOAT7 (H326P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1028296	NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln)	MBOAT7 (R344Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57 +1 more	GUncertain significance
Select item 1028295	NM_024298.5(MBOAT7):c.1031+17A>G	MBOAT7	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1013401	NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro)	MBOAT7 (R145P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57 +1 more	GUncertain significance
Select item 812082	NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	MBOAT7 (Y281* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 812079	NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)	MBOAT7 (L306fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 548624	NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln)	MBOAT7 (R384Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 546854	NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)	MBOAT7 (E376K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 268115	NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs)	MBOAT7 (G201fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 268114	NM_024298.5(MBOAT7):c.854+1G>C	MBOAT7	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 268113	NM_024298.5(MBOAT7):c.423del (p.Leu142fs)	MBOAT7 (L69fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 268112	NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)	MBOAT7	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GPathogenic
Select item 268111	NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)	MBOAT7 (L43fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic

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Items: 36