ClinVar for Gene (Select 29099) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
Select item 3147927	NM_014186.4(COMMD9):c.23A>T (p.His8Leu)	COMMD9 (H8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147926	NM_014186.4(COMMD9):c.220C>T (p.Arg74Cys)	COMMD9 (R65C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147925	NM_014186.4(COMMD9):c.202A>G (p.Thr68Ala)	COMMD9 (T59A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147924	NM_014186.4(COMMD9):c.172G>C (p.Glu58Gln)	COMMD9 (E49Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568295	NM_014186.4(COMMD9):c.364C>T (p.Arg122Cys)	COMMD9 (R122C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565679	NM_014186.4(COMMD9):c.422G>A (p.Arg141His)	COMMD9 (R99H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389345	NM_014186.4(COMMD9):c.524A>G (p.Lys175Arg)	COMMD9 (K133R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349960	NM_014186.4(COMMD9):c.136A>T (p.Thr46Ser)	COMMD9 (T37S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348600	NM_014186.4(COMMD9):c.425T>C (p.Met142Thr)	COMMD9 (M142T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306449	NM_014186.4(COMMD9):c.322A>G (p.Thr108Ala)	COMMD9 (T99A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2241139	NM_014186.4(COMMD9):c.370G>A (p.Val124Ile)	COMMD9 (G112D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 708568	NM_014186.4(COMMD9):c.237C>T (p.Ala79=)	COMMD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 443176	GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1	CD44, COMMD9 +10 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395072	GRCh37/hg19 11p13(chr11:36294301-36310900)x1	COMMD9	Copy number loss	See cases	GBenign
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 33