5908[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +164 more	Copy number loss	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
Select item 1224038	NM_001010942.3(RAP1B):c.-26-290G>A	RAP1B	Single nucleotide variant (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 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 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 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 1283372	NM_001010942.3(RAP1B):c.57+129T>G	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041426	NM_001010942.3(RAP1B):c.58-4dup	RAP1B	Duplication (intron variant)	RAP1B-related disorder	GLikely benign
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 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 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 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 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 1246821	NM_001010942.3(RAP1B):c.184-229G>A	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 754322	NM_001010942.3(RAP1B):c.184-7A>T	RAP1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 709090	NM_001010942.3(RAP1B):c.249C>T (p.Ser83=)	RAP1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1220793	NM_001010942.3(RAP1B):c.324+109dup	RAP1B	Duplication (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 1269724	NM_001010942.3(RAP1B):c.324+291G>A	RAP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 750765	NM_001010942.3(RAP1B):c.351G>A (p.Lys117=)	RAP1B	Single nucleotide variant (synonymous variant)	not provided	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 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 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 2635924	NM_001010942.3(RAP1B):c.468+5G>A	RAP1B	Single nucleotide variant (intron variant)	RAP1B-related disorder	GUncertain significance
Select item 2643168	NM_001010942.3(RAP1B):c.468+6G>A	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 1274932	NM_001010942.3(RAP1B):c.468+129del	RAP1B	Deletion (intron variant)	not provided	GBenign
Select item 1234764	NM_001010942.3(RAP1B):c.469-119dup	RAP1B	Duplication (intron variant)	not provided	GBenign
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42