ClinVar for Gene (Select 54951) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268929	NM_017845.5(COMMD8):c.16G>A (p.Gly6Arg)	COMMD8, LOC129992546 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268928	NM_017845.5(COMMD8):c.103G>A (p.Ala35Thr)	COMMD8 (A35T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147923	NM_017845.5(COMMD8):c.7C>T (p.Pro3Ser)	COMMD8, LOC129992546 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147922	NM_017845.5(COMMD8):c.7C>G (p.Pro3Ala)	COMMD8, LOC129992546 (P3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147921	NM_017845.5(COMMD8):c.47C>A (p.Pro16Gln)	COMMD8, LOC129992546 (P16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147920	NM_017845.5(COMMD8):c.23C>T (p.Pro8Leu)	COMMD8, LOC129992546 (P8L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024632	GRCh37/hg19 4p12(chr4:47163266-47538581)x3	ATP10D, COMMD8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685964	GRCh37/hg19 4p12(chr4:47375627-47618689)x3	ATP10D, COMMD8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2598739	NM_017845.5(COMMD8):c.472A>G (p.Ile158Val)	COMMD8 (I158V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2559990	NM_017845.5(COMMD8):c.364T>G (p.Trp122Gly)	COMMD8 (W122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398668	NM_017845.5(COMMD8):c.431A>G (p.His144Arg)	COMMD8 (H144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381877	NM_017845.5(COMMD8):c.410G>A (p.Arg137Gln)	COMMD8 (R135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361335	NM_017845.5(COMMD8):c.287G>T (p.Ser96Ile)	COMMD8 (S96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209994	NM_017845.5(COMMD8):c.178A>G (p.Lys60Glu)	COMMD8 (K60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814548	GRCh37/hg19 4p12(chr4:47216804-47472305)x3	GABRB1, COMMD8	Copy number gain	not provided	GUncertain significance
Select item 694454	GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	ATP10D, CNGA1 +11 more	Copy number gain	Autism	GLikely pathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35