ClinVar for Gene (Select 51122) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3147912	NM_016094.4(COMMD2):c.70G>A (p.Val24Ile)	COMMD2 (V24I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147911	NM_016094.4(COMMD2):c.587G>A (p.Arg196His)	COMMD2 (R196H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147909	NM_016094.4(COMMD2):c.184G>A (p.Val62Met)	COMMD2 (V62M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2612694	NM_016094.4(COMMD2):c.488A>G (p.Lys163Arg)	COMMD2 (K163R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2557173	NM_016094.4(COMMD2):c.443T>G (p.Val148Gly)	COMMD2 (V148G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536354	NM_016094.4(COMMD2):c.417T>A (p.Ser139Arg)	COMMD2 (S139R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528154	NM_016094.4(COMMD2):c.335C>T (p.Thr112Met)	COMMD2 (T112M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514054	NM_016094.4(COMMD2):c.200A>G (p.Tyr67Cys)	COMMD2 (Y67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485118	NM_016094.4(COMMD2):c.119A>C (p.Asn40Thr)	COMMD2 (N40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401771	NM_016094.4(COMMD2):c.353C>T (p.Ala118Val)	COMMD2 (A118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379577	NM_016094.4(COMMD2):c.23A>C (p.Glu8Ala)	COMMD2 (E8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360226	NM_016094.4(COMMD2):c.163A>G (p.Ser55Gly)	COMMD2 (S55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327427	NM_016094.4(COMMD2):c.86G>T (p.Arg29Leu)	COMMD2 (R29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306664	NM_016094.4(COMMD2):c.389G>A (p.Arg130Gln)	COMMD2 (R130Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265290	NM_016094.4(COMMD2):c.214A>G (p.Ser72Gly)	COMMD2 (S72G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259869	NM_016094.4(COMMD2):c.368G>C (p.Ser123Thr)	COMMD2 (S123T)	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 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	CPB1, EIF2A +28 more	Deletion	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
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 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	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 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 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 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34