LOC126806192[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 3141873	NM_005760.3(CEBPZ):c.116G>T (p.Gly39Val)	CEBPZ, LOC126806192 (G39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254498	NM_005760.3(CEBPZ):c.97A>T (p.Thr33Ser)	CEBPZ, LOC126806192 (T33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316411	NM_005760.3(CEBPZ):c.57G>C (p.Glu19Asp)	CEBPZ, LOC126806192 +1 more (E19D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1291456	NM_005760.3(CEBPZ):c.43C>T (p.Pro15Ser)	CEBPZ, LOC126806192 +1 more (P15S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2520322	NM_005760.3(CEBPZ):c.22T>G (p.Leu8Val)	CEBPZ, LOC126806192 (L8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141876	NM_005760.3(CEBPZ):c.20C>A (p.Pro7His)	CEBPZ, LOC126806192 (P7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259916	NM_005760.3(CEBPZ):c.7G>T (p.Ala3Ser)	CEBPZ, LOC126806192 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141887	NM_005760.3(CEBPZ):c.4G>T (p.Ala2Ser)	CEBPZ, LOC126806192 (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262599	NM_005760.3(CEBPZ):c.-1C>T	CEBPZ, LOC126806192 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241731	NM_144736.5(NDUFAF7):c.-37_-36delinsC	LOC126806192, NDUFAF7	Indel (5 prime UTR variant +1 more)	not provided	GBenign
Select item 214756	NM_144736.5(NDUFAF7):c.-37del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 418379	NM_144736.5(NDUFAF7):c.-36del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 138466	NM_144736.5(NDUFAF7):c.-36G>C	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 681600	NM_144736.5(NDUFAF7):c.-11C>T	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1587336	NM_144736.5(NDUFAF7):c.9A>G (p.Val3=)	LOC126806192, NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 214757	NM_144736.5(NDUFAF7):c.19T>A (p.Ser7Thr)	LOC126806192, NDUFAF7 (S7T)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 214761	NM_144736.5(NDUFAF7):c.23G>A (p.Gly8Asp)	LOC126806192, NDUFAF7 (G8D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 138467	NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His)	LOC126806192, NDUFAF7 (R17H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1268049	NM_144736.5(NDUFAF7):c.56-66C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673729	NM_144736.5(NDUFAF7):c.56-41C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2985187	NM_144736.5(NDUFAF7):c.56C>T (p.Ala19Val)	LOC126806192, NDUFAF7 (A19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915835	NM_144736.5(NDUFAF7):c.67A>G (p.Ile23Val)	LOC126806192, NDUFAF7 (I23V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886365	NM_144736.5(NDUFAF7):c.77G>T (p.Gly26Val)	LOC126806192, NDUFAF7 (G26V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28