TREML2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 2366948	NM_024807.4(TREML2):c.944A>G (p.Tyr315Cys)	TREML2 (Y315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515122	NM_024807.4(TREML2):c.916C>T (p.Arg306Cys)	TREML2 (R306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330073	NM_024807.4(TREML2):c.852G>A (p.Met284Ile)	TREML2 (M284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555090	NM_024807.4(TREML2):c.806C>T (p.Thr269Ile)	TREML2 (T269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245698	NM_024807.4(TREML2):c.806C>G (p.Thr269Ser)	TREML2 (T269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182106	NM_024807.4(TREML2):c.783C>G (p.Ile261Met)	TREML2 (I261M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396137	NM_024807.4(TREML2):c.769T>C (p.Ser257Pro)	TREML2 (S257P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511089	NM_024807.4(TREML2):c.751C>G (p.Leu251Val)	TREML2 (L251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520442	NM_024807.4(TREML2):c.747A>T (p.Arg249Ser)	TREML2 (R249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475916	NM_024807.4(TREML2):c.725C>T (p.Thr242Ile)	TREML2 (T242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328577	NM_024807.4(TREML2):c.648C>A (p.Ser216Arg)	TREML2 (S216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208364	NM_024807.4(TREML2):c.638C>T (p.Ala213Val)	TREML2 (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306395	NM_024807.4(TREML2):c.620G>T (p.Gly207Val)	TREML2 (G207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328576	NM_024807.4(TREML2):c.612G>C (p.Arg204Ser)	TREML2 (R204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384022	NM_024807.4(TREML2):c.562A>T (p.Thr188Ser)	TREML2 (T188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513832	NM_024807.4(TREML2):c.553G>A (p.Ala185Thr)	TREML2 (A185T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328575	NM_024807.4(TREML2):c.509C>A (p.Pro170Gln)	TREML2 (P170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182105	NM_024807.4(TREML2):c.418A>G (p.Asn140Asp)	TREML2 (N140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182104	NM_024807.4(TREML2):c.407C>T (p.Thr136Ile)	TREML2 (T136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656541	NM_024807.4(TREML2):c.346T>C (p.Leu116=)	TREML2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282969	NM_024807.4(TREML2):c.326C>G (p.Thr109Ser)	TREML2 (T109S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597385	NM_024807.4(TREML2):c.227G>A (p.Arg76His)	TREML2 (R76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364124	NM_024807.4(TREML2):c.192G>C (p.Glu64Asp)	TREML2 (E64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182103	NM_024807.4(TREML2):c.137A>G (p.Tyr46Cys)	TREML2 (Y46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342189	NM_024807.4(TREML2):c.133G>A (p.Gly45Ser)	TREML2 (G45S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182102	NM_024807.4(TREML2):c.119A>G (p.Gln40Arg)	TREML2 (Q40R)	Single nucleotide variant (missense variant)	not specified	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 2487519	NM_024807.4(TREML2):c.42G>C (p.Gln14His)	TREML2 (Q14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 36