6164[Gene ID] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 2279408	NM_001319236.2(RPL34):c.16A>C (p.Thr6Pro)	RPL34 (T6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655019	NM_001319236.2(RPL34):c.18A>C (p.Thr6=)	RPL34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2473342	NM_001319236.2(RPL34):c.20A>C (p.Tyr7Ser)	RPL34 (Y7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315198	NM_001319236.2(RPL34):c.97C>G (p.Leu33Val)	RPL34 (L33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395557	NM_001319236.2(RPL34):c.124C>T (p.Pro42Ser)	RPL34 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156077	NM_001319236.2(RPL34):c.166G>A (p.Val56Ile)	RPL34 (V56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655020	NM_001319236.2(RPL34):c.291C>T (p.Ile97=)	RPL34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062784	GRCh37/hg19 4q25(chr4:109435490-109646767)x3	OSTC, RPL34	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 686612	GRCh37/hg19 4q25(chr4:109296184-109544887)x3	RPL34	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 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

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Items: 21