28685[HGNC] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 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
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 150527	GRCh38/hg38 4p11(chr4:48782301-49081285)x3	CWH43, LOC129992576 +5 more	Copy number gain	See cases	GLikely benign
Select item 2618282	NM_001014446.3(OCIAD2):c.440G>C (p.Gly147Ala)	OCIAD2 (G147A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374314	NM_001014446.3(OCIAD2):c.424G>A (p.Gly142Arg)	OCIAD2 (G142R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203936	NM_001014446.3(OCIAD2):c.392T>C (p.Leu131Pro)	OCIAD2 (L69P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203935	NM_001014446.3(OCIAD2):c.352C>T (p.Arg118Cys)	OCIAD2 (R118C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209944	NM_001014446.3(OCIAD2):c.321G>C (p.Gln107His)	OCIAD2 (Q107H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246443	NM_001014446.3(OCIAD2):c.316T>C (p.Cys106Arg)	OCIAD2 (C106R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307167	NM_001014446.3(OCIAD2):c.314T>C (p.Val105Ala)	OCIAD2 (V105A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588452	NM_001014446.3(OCIAD2):c.304T>C (p.Tyr102His)	OCIAD2 (Y102H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299776	NM_001014446.3(OCIAD2):c.229G>C (p.Ala77Pro)	OCIAD2 (A15P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338105	NM_001014446.3(OCIAD2):c.20G>T (p.Arg7Leu)	OCIAD2 (R7L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341474	NM_001014446.3(OCIAD2):c.19C>T (p.Arg7Cys)	OCIAD2 (R7C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313999	NM_001014446.3(OCIAD2):c.17C>T (p.Ala6Val)	OCIAD2 (A6V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459721	NM_001014446.3(OCIAD2):c.11C>T (p.Ala4Val)	OCIAD2 (A4V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2282940	NM_001014446.3(OCIAD2):c.4G>A (p.Ala2Thr)	OCIAD2 (A2T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 2685966	GRCh37/hg19 4p11(chr4:48480855-49089361)x3	CWH43, FRYL +4 more	Copy number gain	not provided	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 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 813840	GRCh37/hg19 4p11(chr4:48784236-48907733)x3	OCIAD1, OCIAD2	Copy number gain	Anophthalmia +1 more	GUncertain significance
Select item 562911	GRCh37/hg19 4p11(chr4:48792769-49089361)x3	CWH43, OCIAD1 +1 more	Copy number gain	not provided	GLikely benign
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 442668	GRCh37/hg19 4p11(chr4:48550268-49093788)x3	CWH43, FRYL +2 more	Copy number gain	See cases	GUncertain significance
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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 395062	GRCh37/hg19 4p11(chr4:48894745-48906622)x1	OCIAD2	Copy number loss	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +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

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Items: 36