2317[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 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 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 2239444	NM_130808.3(CPNE4):c.1670C>T (p.Pro557Leu)	CPNE4 (P557L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261076	NM_130808.3(CPNE4):c.1610G>A (p.Gly537Asp)	CPNE4 (G537D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207260	NM_130808.3(CPNE4):c.1565G>A (p.Ser522Asn)	CPNE4 (S522N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076768	NM_130808.3(CPNE4):c.1563G>C (p.Lys521Asn)	CPNE4 (K521N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620013	NM_130808.3(CPNE4):c.1486G>C (p.Glu496Gln)	CPNE4 (E383Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268528	NM_130808.3(CPNE4):c.1408G>A (p.Val470Met)	CPNE4 (V488M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543389	NM_130808.3(CPNE4):c.1258G>A (p.Val420Ile)	CPNE4 (V307I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322678	NM_130808.3(CPNE4):c.628T>C (p.Phe210Leu)	CPNE4 (F210L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603004	NM_130808.3(CPNE4):c.485A>G (p.Asn162Ser)	CPNE4 (N49S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410801	NM_130808.3(CPNE4):c.458A>G (p.Asn153Ser)	CPNE4 (N153S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320285	NM_130808.3(CPNE4):c.325G>A (p.Asp109Asn)	CPNE4 (D109N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233192	NM_130808.3(CPNE4):c.305A>G (p.His102Arg)	CPNE4 (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313536	NM_130808.3(CPNE4):c.275G>A (p.Arg92Gln)	CPNE4 (R92Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076770	NM_130808.3(CPNE4):c.269G>A (p.Arg90His)	CPNE4 (R90H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076769	NM_130808.3(CPNE4):c.203G>A (p.Arg68His)	CPNE4 (R68H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411853	NM_130808.3(CPNE4):c.31G>A (p.Ala11Thr)	CPNE4 (A11T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076767	NM_130808.3(CPNE4):c.12G>A (p.Met4Ile)	CPNE4 (M4I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269221	NM_130808.3(CPNE4):c.8A>T (p.Lys3Met)	CPNE4 (K21M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076771	NM_130808.3(CPNE4):c.5A>G (p.Lys2Arg)	CPNE4 (K2R +1 more)	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 973598	GRCh37/hg19 3q22.1(chr3:131507971-132143591)x3	ACP3, CPNE4 +1 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 814481	GRCh37/hg19 3q22.1(chr3:131649934-131884654)x3	CPNE4	Copy number gain	not provided	GLikely benign
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

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Items: 33