ClinVar for Gene (Select 126806824) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3000166	NM_002899.5(RBP1):c.427C>G (p.Arg143Gly)	COPB2-DT, LOC126806824 +1 more (R143G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816637	NM_002899.5(RBP1):c.438+13G>T	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742033	NM_002899.5(RBP1):c.409C>G (p.Leu137Val)	COPB2-DT, LOC126806824 +1 more (L137V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118585	NM_002899.5(RBP1):c.406G>A (p.Asp136Asn)	COPB2-DT, LOC126806824 +1 more (D136N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112599	NM_002899.5(RBP1):c.438+17A>C	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066296	NM_002899.5(RBP1):c.405G>T (p.Glu135Asp)	COPB2-DT, LOC126806824 +1 more (E73D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006599	NM_002899.5(RBP1):c.436A>G (p.Met146Val)	COPB2-DT, LOC126806824 +1 more (M146V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972811	NM_002899.5(RBP1):c.416G>T (p.Gly139Val)	COPB2-DT, LOC126806824 +1 more (G139V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590247	NM_002899.5(RBP1):c.438+13G>C	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586963	NM_002899.5(RBP1):c.438+20T>C	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1512330	NM_002899.5(RBP1):c.427C>T (p.Arg143Cys)	COPB2-DT, LOC126806824 +1 more (R81C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448093	NM_002899.5(RBP1):c.438+3G>A	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	LOC129937649, LOC129937650 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 154230	GRCh38/hg38 3q23(chr3:139466635-140108900)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149950	GRCh38/hg38 3q23(chr3:139468925-140102684)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 57796	GRCh38/hg38 3q23(chr3:139525129-140095577)x3	CLSTN2, COPB2-DT +10 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 27