ClinVar for MedGen (Select 811489) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064853	NM_031296.3(RAB33B):c.118G>T (p.Gly40Cys)	RAB33B (G40C)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 2687888	NM_031296.3(RAB33B):c.133G>A (p.Gly45Ser)	RAB33B (G45S)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 1679887	NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr)	RAB33B	Single nucleotide variant (stop lost)	Smith-McCort dysplasia 2	GUncertain significance
Select item 1384265	NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala)	LOC129993110, RAB33B (T65A)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2 +1 more	GUncertain significance
Select item 1098422	NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter)	RAB33B (R94*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 1098421	NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter)	RAB33B (C48*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 1098420	NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter)	RAB33B (Q85*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 1048093	NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)	RAB33B (Q134*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2 +1 more	GPathogenic
Select item 902921	NM_031296.3(RAB33B):c.*2271A>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902920	NM_031296.3(RAB33B):c.*2130G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902919	NM_031296.3(RAB33B):c.*1949A>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902918	NM_031296.3(RAB33B):c.*1925A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902859	NM_031296.3(RAB33B):c.*161C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902858	NM_031296.3(RAB33B):c.*146T>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902857	NM_031296.3(RAB33B):c.*1A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902856	NM_031296.3(RAB33B):c.678G>A (p.Thr226=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902855	NM_031296.3(RAB33B):c.613T>C (p.Leu205=)	RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902033	NM_031296.3(RAB33B):c.*1455A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902032	NM_031296.3(RAB33B):c.*1322C>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902031	NM_031296.3(RAB33B):c.*1235G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901956	NM_031296.3(RAB33B):c.600G>A (p.Lys200=)	RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901955	NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)	RAB33B (T177M)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 901473	NM_031296.3(RAB33B):c.*2754C>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901472	NM_031296.3(RAB33B):c.*2722T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 901411	NM_031296.3(RAB33B):c.*1157T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901410	NM_031296.3(RAB33B):c.*924G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901409	NM_031296.3(RAB33B):c.*780T>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901355	NM_031296.3(RAB33B):c.201G>A (p.Gly67=)	LOC129993110, RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900367	NM_031296.3(RAB33B):c.*2548T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 900366	NM_031296.3(RAB33B):c.*2522A>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900365	NM_031296.3(RAB33B):c.*2391C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900364	NM_031296.3(RAB33B):c.*2359T>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900363	NM_031296.3(RAB33B):c.*2355T>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2 +1 more	GUncertain significance
Select item 900307	NM_031296.3(RAB33B):c.*576T>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 900306	NM_031296.3(RAB33B):c.*513C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 900305	NM_031296.3(RAB33B):c.*425T>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 747193	NM_031296.3(RAB33B):c.258A>G (p.Leu86=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 599277	NM_031296.3(RAB33B):c.186del (p.Glu63fs)	LOC129993110, RAB33B (E63fs)	Deletion (frameshift variant)	Smith-McCort dysplasia 2	GPathogenic/Likely pathogenic
Select item 425563	NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter)	RAB33B (Q164*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 425562	NM_031296.3(RAB33B):c.48_55del (p.Gly17fs)	RAB33B (G17fs)	Deletion (frameshift variant)	Smith-McCort dysplasia 2	GPathogenic
Select item 425561	NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)	RAB33B (F122S)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GConflicting classifications of pathogenicity
Select item 425560	NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter)	LOC129993110, RAB33B (R71*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 347593	NM_031296.3(RAB33B):c.*2651C>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 347592	NM_031296.3(RAB33B):c.*2599A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347591	NM_031296.3(RAB33B):c.*2327G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347590	NM_031296.3(RAB33B):c.*2132T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347589	NM_031296.3(RAB33B):c.*2026G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 347588	NM_031296.3(RAB33B):c.*1994T>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347587	NM_031296.3(RAB33B):c.*1976A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347586	NM_031296.3(RAB33B):c.*1819A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347585	NM_031296.3(RAB33B):c.*1751G>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 347584	NM_031296.3(RAB33B):c.*1403C>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 347583	NM_031296.3(RAB33B):c.*1310G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347582	NM_031296.3(RAB33B):c.*1303C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 347581	NM_031296.3(RAB33B):c.*1077G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GBenign
Select item 347579	NM_031296.3(RAB33B):c.*776C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347578	NM_031296.3(RAB33B):c.*764G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347577	NM_031296.3(RAB33B):c.*701G>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347576	NM_031296.3(RAB33B):c.*632A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347575	NM_031296.3(RAB33B):c.*595G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 347574	NM_031296.3(RAB33B):c.*590T>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 347573	NM_031296.3(RAB33B):c.*543C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 347572	NM_031296.3(RAB33B):c.*494A>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347571	NM_031296.3(RAB33B):c.*254A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 347570	NM_031296.3(RAB33B):c.*219A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347569	NM_031296.3(RAB33B):c.*118T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347568	NM_031296.3(RAB33B):c.677C>T (p.Thr226Met)	RAB33B (T226M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 347567	NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp)	RAB33B (N185D)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347566	NM_031296.3(RAB33B):c.432T>C (p.Ile144=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347565	NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys)	RAB33B (N139K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 347564	NM_031296.3(RAB33B):c.336C>T (p.Phe112=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347563	NM_031296.3(RAB33B):c.249+10T>C	RAB33B	Single nucleotide variant (intron variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347562	NM_031296.3(RAB33B):c.135C>G (p.Gly45=)	RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 347561	NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser)	RAB33B (N43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 347560	NM_031296.3(RAB33B):c.-36C>T	RAB33B	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia 2	GBenign
Select item 347559	NM_031296.3(RAB33B):c.-48C>T	LOC129993109, RAB33B	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347558	NM_031296.3(RAB33B):c.-54C>G	LOC129993109, RAB33B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 50231	NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys)	RAB33B (N148K)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GPathogenic
Select item 50230	NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln)	RAB33B (K46Q)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GLikely pathogenic

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Items: 79