"OBSL1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 746943	NM_015311.3(OBSL1):c.4990-6C>T	OBSL1	Single nucleotide variant (intron variant)	OBSL1-related disorder +1 more	GLikely benign
Select item 1659080	NM_015311.3(OBSL1):c.4877-7C>T	OBSL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1055632	NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)	OBSL1 (Q1578W)	Inversion (missense variant)	OBSL1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 496928	NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)	OBSL1 (Q1578*)	Single nucleotide variant (nonsense)	3M syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 287531	NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1395292	NM_015311.3(OBSL1):c.4483C>T (p.Arg1495Cys)	OBSL1 (R1495C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 334471	NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn)	OBSL1 (D1493N)	Single nucleotide variant (missense variant)	3M syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 3043951	NM_015311.3(OBSL1):c.4167T>C (p.Asp1389=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder	GLikely benign
Select item 2973287	NM_015311.3(OBSL1):c.4143T>C (p.Cys1381=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder +1 more	GLikely benign
Select item 334488	NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn)	OBSL1 (D1342N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 284425	NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +3 more	GBenign/Likely benign
Select item 2634615	NM_015311.3(OBSL1):c.3941G>A (p.Arg1314Gln)	OBSL1 (R1314Q)	Single nucleotide variant (missense variant)	OBSL1-related disorder	GUncertain significance
Select item 1375767	NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter)	OBSL1 (R1308*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334491	NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 809172	NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)	OBSL1 (G1284S)	Single nucleotide variant (missense variant)	OBSL1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1917602	NM_015311.3(OBSL1):c.3621C>T (p.Ser1207=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 779085	NM_015311.3(OBSL1):c.3595C>T (p.Arg1199Trp)	OBSL1 (R1199W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 720296	NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 744807	NM_015311.3(OBSL1):c.3323C>G (p.Ala1108Gly)	OBSL1 (A1108G)	Single nucleotide variant (missense variant)	OBSL1-related disorder +1 more	GLikely benign
Select item 724327	NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys)	OBSL1 (R1102C)	Single nucleotide variant (missense variant)	3M syndrome 2 +3 more	GLikely benign
Select item 2637375	NM_015311.3(OBSL1):c.3106del (p.Val1036fs)	OBSL1 (V1036fs)	Deletion (frameshift variant)	OBSL1-related disorder	GLikely pathogenic
Select item 199136	NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +3 more	GBenign/Likely benign
Select item 3033515	NM_015311.3(OBSL1):c.2953+485C>T	OBSL1	Single nucleotide variant (synonymous variant +1 more)	OBSL1-related disorder	GLikely benign
Select item 3042813	NM_015311.3(OBSL1):c.2953+431G>A	OBSL1	Single nucleotide variant (synonymous variant +1 more)	OBSL1-related disorder	GLikely benign
Select item 733285	NM_015311.3(OBSL1):c.2697C>T (p.Ile899=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3045134	NM_015311.3(OBSL1):c.2680+6G>A	OBSL1	Single nucleotide variant (intron variant)	OBSL1-related disorder	GLikely benign
Select item 1170567	NM_015311.3(OBSL1):c.2661C>T (p.Tyr887=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 198218	NM_015311.3(OBSL1):c.2238G>A (p.Pro746=)	OBSL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 789979	NM_015311.3(OBSL1):c.2190C>G (p.Thr730=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 725669	NM_015311.3(OBSL1):c.2012G>A (p.Arg671His)	OBSL1 (R671H)	Single nucleotide variant (missense variant)	3M syndrome 2 +3 more	GLikely benign
Select item 334513	NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn)	OBSL1 (D638N)	Single nucleotide variant (missense variant)	3M syndrome 2 +2 more	GLikely benign
Select item 1989132	NM_015311.3(OBSL1):c.1752C>T (p.Ser584=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 898942	NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp)	OBSL1 (R555W)	Single nucleotide variant (missense variant)	3M syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 3061692	NM_015311.3(OBSL1):c.1603C>G (p.Leu535Val)	OBSL1 (L535V)	Single nucleotide variant (missense variant)	OBSL1-related disorder	GUncertain significance
Select item 1418430	NM_015311.3(OBSL1):c.1480G>A (p.Glu494Lys)	OBSL1 (E494K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3040794	NM_015311.3(OBSL1):c.1359A>G (p.Leu453=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder	GLikely benign
Select item 2892312	NM_015311.3(OBSL1):c.1308G>A (p.Arg436=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder +1 more	GLikely benign
Select item 896260	NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His)	OBSL1 (Y410H)	Single nucleotide variant (missense variant)	3M syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 334529	NM_015311.3(OBSL1):c.851G>A (p.Arg284His)	OBSL1 (R284H)	Single nucleotide variant (missense variant)	3M syndrome 2 +2 more	GBenign/Likely benign
Select item 334534	NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu)	OBSL1 (A198E)	Single nucleotide variant (missense variant)	3M syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 773567	NM_015311.3(OBSL1):c.546C>T (p.Gly182=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder +1 more	GLikely benign
Select item 1333217	NM_015311.3(OBSL1):c.458dup (p.Leu154fs)	OBSL1 (L154fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 283605	NM_015311.3(OBSL1):c.423G>A (p.Arg141=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +3 more	GBenign/Likely benign
Select item 2633291	NM_015311.3(OBSL1):c.399del (p.Pro134fs)	OBSL1 (P134fs)	Deletion (frameshift variant)	OBSL1-related disorder	GLikely pathogenic
Select item 597738	NM_015311.3(OBSL1):c.375G>A (p.Glu125=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2629695	NM_015311.3(OBSL1):c.149_162dup (p.Glu56fs)	OBSL1 (E56fs)	Duplication (frameshift variant)	OBSL1-related disorder	GLikely pathogenic
Select item 3049893	NM_015311.3(OBSL1):c.120G>C (p.Pro40=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder	GLikely benign
Select item 334537	NM_015311.3(OBSL1):c.96G>A (p.Lys32=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +2 more	GBenign

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Items: 48