ClinVar for Gene (Select 5948) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313368	NM_004164.3(RBP2):c.65A>G (p.Lys22Arg)	COPB2-DT, RBP2 (K22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152579	NM_004164.3(RBP2):c.92G>A (p.Arg31His)	COPB2-DT, RBP2 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152578	NM_004164.3(RBP2):c.77T>C (p.Ile26Thr)	COPB2-DT, RBP2 (I26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152577	NM_004164.3(RBP2):c.23C>T (p.Thr8Ile)	COPB2-DT, RBP2 (T8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152576	NM_004164.3(RBP2):c.217G>A (p.Glu73Lys)	COPB2-DT, RBP2 (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2510034	NM_004164.3(RBP2):c.12C>G (p.Asp4Glu)	COPB2-DT, RBP2 (D4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455810	NM_004164.3(RBP2):c.119C>T (p.Thr40Met)	COPB2-DT, RBP2 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327379	NM_004164.3(RBP2):c.46A>C (p.Asn16His)	COPB2-DT, RBP2 (N16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294593	NM_004164.3(RBP2):c.176G>A (p.Arg59His)	COPB2-DT, RBP2 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256580	NM_004164.3(RBP2):c.107G>A (p.Arg36His)	COPB2-DT, RBP2 (R36H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221925	NM_004164.3(RBP2):c.242G>A (p.Arg81Gln)	COPB2-DT, RBP2 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
Select item 1340364	GRCh37/hg19 3q23(chr3:139185478-139827713)x3	CLSTN2, NMNAT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814483	GRCh37/hg19 3q23(chr3:139171944-139827713)x3	RBP1, NMNAT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 685841	GRCh37/hg19 3q23(chr3:139185788-139827742)x3	CLSTN2, NMNAT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	GUncertain significance
Select item 442677	GRCh37/hg19 3q23(chr3:139185477-139832220)x3	CLSTN2, NMNAT3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 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	LOC129937605, LOC129937606 +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	LOC115995524, LOC115995525 +2647 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

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Links from Gene

Items: 41