ClinVar for Gene (Select 5908) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377234	NM_001010942.3(RAP1B):c.11A>G (p.Tyr4Cys)	RAP1B (Y4C)	Single nucleotide variant (missense variant)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GUncertain significance
Select item 3041426	NM_001010942.3(RAP1B):c.58-4dup	RAP1B	Duplication (intron variant)	RAP1B-related disorder	GLikely benign
Select item 3034954	NM_001010942.3(RAP1B):c.405A>G (p.Ala135=)	RAP1B	Single nucleotide variant (synonymous variant)	RAP1B-related disorder	GLikely benign
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2674587	NM_001010942.3(RAP1B):c.178G>A (p.Gly60Arg)	RAP1B (G60R)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 2672309	NM_001010942.3(RAP1B):c.35G>A (p.Gly12Glu)	RAP1B	Single nucleotide variant (missense variant)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 2672307	NM_001010942.3(RAP1B):c.178G>C (p.Gly60Arg)	RAP1B	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 2672306	NM_001010942.3(RAP1B):c.35G>T (p.Gly12Val)	RAP1B	Single nucleotide variant (missense variant)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 2672305	NM_001010942.3(RAP1B):c.451A>G (p.Lys151Glu)	RAP1B (K104E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643168	NM_001010942.3(RAP1B):c.468+6G>A	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2635924	NM_001010942.3(RAP1B):c.468+5G>A	RAP1B	Single nucleotide variant (intron variant)	RAP1B-related disorder	GUncertain significance
Select item 2579432	NM_001010942.3(RAP1B):c.104C>T (p.Thr35Met)	RAP1B (T35M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2019742	NM_001010942.3(RAP1B):c.278T>C (p.Leu93Ser)	RAP1B (L93S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1300148	NM_001010942.3(RAP1B):c.176C>G (p.Ala59Gly)	RAP1B (A59G)	Single nucleotide variant (missense variant +1 more)	See cases	GLikely pathogenic
Select item 1283372	NM_001010942.3(RAP1B):c.57+129T>G	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279970	NM_001010942.3(RAP1B):c.324+106G>A	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274932	NM_001010942.3(RAP1B):c.468+129del	RAP1B	Deletion (intron variant)	not provided	GBenign
Select item 1269724	NM_001010942.3(RAP1B):c.324+291G>A	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267109	NM_001010942.3(RAP1B):c.126+33G>T	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266904	NM_001010942.3(RAP1B):c.126+228T>G	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265888	NM_001010942.3(RAP1B):c.468+129dup	RAP1B	Duplication (intron variant)	not provided	GBenign
Select item 1254710	NM_001010942.3(RAP1B):c.-10A>G	RAP1B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1246821	NM_001010942.3(RAP1B):c.184-229G>A	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234764	NM_001010942.3(RAP1B):c.469-119dup	RAP1B	Duplication (intron variant)	not provided	GBenign
Select item 1224038	NM_001010942.3(RAP1B):c.-26-290G>A	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220793	NM_001010942.3(RAP1B):c.324+109dup	RAP1B	Duplication (intron variant)	not provided	GBenign
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 754322	NM_001010942.3(RAP1B):c.184-7A>T	RAP1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750765	NM_001010942.3(RAP1B):c.351G>A (p.Lys117=)	RAP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745743	NM_001010942.3(RAP1B):c.273C>T (p.Asn91=)	RAP1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733638	NM_001010942.3(RAP1B):c.411A>G (p.Gln137=)	RAP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722876	NM_001010942.3(RAP1B):c.438T>C (p.Ser146=)	RAP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709090	NM_001010942.3(RAP1B):c.249C>T (p.Ser83=)	RAP1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 451009	NM_001010942.3(RAP1B):c.184-1G>A	RAP1B	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +164 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 42