ClinVar for Gene (Select 79865) - ClinVar

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

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2656541	NM_024807.4(TREML2):c.346T>C (p.Leu116=)	TREML2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597385	NM_024807.4(TREML2):c.227G>A (p.Arg76His)	TREML2 (R76H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555090	NM_024807.4(TREML2):c.806C>T (p.Thr269Ile)	TREML2 (T269I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520442	NM_024807.4(TREML2):c.747A>T (p.Arg249Ser)	TREML2 (R249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515122	NM_024807.4(TREML2):c.916C>T (p.Arg306Cys)	TREML2 (R306C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513832	NM_024807.4(TREML2):c.553G>A (p.Ala185Thr)	TREML2 (A185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2511089	NM_024807.4(TREML2):c.751C>G (p.Leu251Val)	TREML2 (L251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487519	NM_024807.4(TREML2):c.42G>C (p.Gln14His)	TREML2 (Q14H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475916	NM_024807.4(TREML2):c.725C>T (p.Thr242Ile)	TREML2 (T242I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2396137	NM_024807.4(TREML2):c.769T>C (p.Ser257Pro)	TREML2 (S257P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384022	NM_024807.4(TREML2):c.562A>T (p.Thr188Ser)	TREML2 (T188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366948	NM_024807.4(TREML2):c.944A>G (p.Tyr315Cys)	TREML2 (Y315C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364124	NM_024807.4(TREML2):c.192G>C (p.Glu64Asp)	TREML2 (E64D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342189	NM_024807.4(TREML2):c.133G>A (p.Gly45Ser)	TREML2 (G45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330073	NM_024807.4(TREML2):c.852G>A (p.Met284Ile)	TREML2 (M284I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306395	NM_024807.4(TREML2):c.620G>T (p.Gly207Val)	TREML2 (G207V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282969	NM_024807.4(TREML2):c.326C>G (p.Thr109Ser)	TREML2 (T109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2245698	NM_024807.4(TREML2):c.806C>G (p.Thr269Ser)	TREML2 (T269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208364	NM_024807.4(TREML2):c.638C>T (p.Ala213Val)	TREML2 (A213V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769682	NM_024807.4(TREML2):c.69C>G (p.Asp23Glu)	TREML2 (D23E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28