ClinVar for Gene (Select 55573) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265629	NM_017548.5(CDV3):c.333A>C (p.Glu111Asp)	CDV3 (E110D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265628	NM_017548.5(CDV3):c.151G>A (p.Gly51Arg)	CDV3, LOC129937601 (G51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141756	NM_017548.5(CDV3):c.740T>G (p.Leu247Arg)	CDV3 (L246R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141755	NM_017548.5(CDV3):c.394G>A (p.Gly132Arg)	CDV3 (G131R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141754	NM_017548.5(CDV3):c.349A>G (p.Arg117Gly)	CDV3 (R116G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607076	NM_017548.5(CDV3):c.698A>T (p.Asn233Ile)	CDV3 (N232I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2532691	NM_017548.5(CDV3):c.173C>T (p.Pro58Leu)	CDV3, LOC129937601 (P58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481476	NM_017548.5(CDV3):c.49G>A (p.Asp17Asn)	CDV3, LOC129937600 (D17N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461997	NM_017548.5(CDV3):c.490A>T (p.Met164Leu)	CDV3 (M163L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457761	NM_017548.5(CDV3):c.155C>T (p.Ala52Val)	CDV3, LOC129937601 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401551	NM_017548.5(CDV3):c.446C>T (p.Ala149Val)	CDV3 (A148V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387335	NM_017548.5(CDV3):c.104C>T (p.Ala35Val)	CDV3, LOC129937601 (A35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349516	NM_017548.5(CDV3):c.697A>C (p.Asn233His)	CDV3 (N233H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2315326	NM_017548.5(CDV3):c.709A>C (p.Lys237Gln)	CDV3 (K135Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2307546	NM_017548.5(CDV3):c.371G>T (p.Trp124Leu)	CDV3 (W123L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297509	NM_017548.5(CDV3):c.692C>T (p.Ser231Leu)	CDV3 (S230L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2278491	NM_017548.5(CDV3):c.671A>G (p.Asn224Ser)	CDV3 (N224S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2273851	NM_017548.5(CDV3):c.274G>A (p.Glu92Lys)	CDV3 (E92K)	Single nucleotide variant (missense variant +1 more)	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 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
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 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 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 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	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 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 32