COMMD1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 545283	Single allele	B3GNT2, CCT4 +59 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60179	GRCh38/hg38 2p15(chr2:61515438-62305848)x1	B3GNT2, CCT4 +32 more	Copy number loss	See cases	GPathogenic
Select item 2400552	NM_006430.4(CCT4):c.71A>T (p.Tyr24Phe)	CCT4, COMMD1 (Y24F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546230	NM_006430.4(CCT4):c.59G>A (p.Gly20Glu)	CCT4, COMMD1 (G20E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217999	NM_152516.4(COMMD1):c.15G>C (p.Glu5Asp)	COMMD1 (E5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147907	NM_152516.4(COMMD1):c.74A>G (p.His25Arg)	COMMD1, LOC129933847 (H25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391851	NM_152516.4(COMMD1):c.83C>T (p.Pro28Leu)	COMMD1, LOC129933847 (P28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268911	NM_152516.4(COMMD1):c.98A>T (p.Glu33Val)	COMMD1, LOC129933847 (E33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285540	NM_152516.4(COMMD1):c.116T>C (p.Leu39Pro)	COMMD1, LOC129933847 (L39P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147905	NM_152516.4(COMMD1):c.184A>G (p.Ile62Val)	COMMD1 (I62V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3268912	NM_152516.4(COMMD1):c.229A>G (p.Thr77Ala)	COMMD1 (T11A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463895	NM_152516.4(COMMD1):c.362G>A (p.Gly121Asp)	COMMD1 (G121D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268913	NM_152516.4(COMMD1):c.409C>G (p.Gln137Glu)	COMMD1 (Q71E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396646	NM_152516.4(COMMD1):c.414A>G (p.Ile138Met)	COMMD1 (I72M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147906	NM_152516.4(COMMD1):c.435A>G (p.Ile145Met)	COMMD1 (I145M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324209	NM_152516.4(COMMD1):c.444A>C (p.Glu148Asp)	COMMD1 (E148D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149946	GRCh38/hg38 2p15(chr2:62006650-62779065)x3	B3GNT2, COMMD1 +43 more	Copy number gain	See cases	GLikely benign
Select item 152565	GRCh38/hg38 2p15(chr2:62031155-62779065)x3	B3GNT2, COMMD1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2205336	NM_152516.4(COMMD1):c.515T>C (p.Leu172Pro)	COMMD1 (L106P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512627	NM_152516.4(COMMD1):c.548G>T (p.Ser183Ile)	COMMD1 (S117I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062602	GRCh37/hg19 2p15(chr2:61518864-62195531)x3	CCT4, COMMD1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062588	GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3	C2orf74, CCT4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 814269	GRCh37/hg19 2p15(chr2:61523951-62262243)x3	USP34, XPO1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688228	GRCh37/hg19 2p15(chr2:62195677-62228180)x1	COMMD1	Copy number loss	not provided	GUncertain significance
Select item 687086	GRCh37/hg19 2p15(chr2:61968083-62238312)x1	CCT4, COMMD1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 562566	GRCh37/hg19 2p15(chr2:62302506-62602053)x3	B3GNT2, COMMD1	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523277	GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)	PEX13, BCL11A +10 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance

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Items: 43