TREML1[gene] - ClinVar

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Items: 24

	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 2259898	NM_178174.4(TREML1):c.921G>C (p.Gln307His)	TREML1 (Q307H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182101	NM_178174.4(TREML1):c.875G>A (p.Gly292Asp)	TREML1 (G181D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539566	NM_178174.4(TREML1):c.854T>A (p.Ile285Asn)	TREML1 (I174N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182100	NM_178174.4(TREML1):c.848C>T (p.Thr283Ile)	TREML1 (T283I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2281529	NM_178174.4(TREML1):c.832C>T (p.Pro278Ser)	TREML1 (P278S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525582	NM_178174.4(TREML1):c.730A>T (p.Thr244Ser)	TREML1 (T133S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208314	NM_178174.4(TREML1):c.576G>T (p.Arg192Ser)	TREML1 (R192S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182097	NM_178174.4(TREML1):c.523G>A (p.Val175Met)	TREML1 (V64M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292028	NM_178174.4(TREML1):c.500C>T (p.Ala167Val)	TREML1 (A167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539075	NM_178174.4(TREML1):c.452C>T (p.Pro151Leu)	TREML1 (P40L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256614	NM_178174.4(TREML1):c.439G>A (p.Gly147Ser)	TREML1 (G147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362572	NM_178174.4(TREML1):c.314T>C (p.Met105Thr)	TREML1 (M105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182096	NM_178174.4(TREML1):c.286G>A (p.Glu96Lys)	TREML1 (E96K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328574	NM_178174.4(TREML1):c.227G>A (p.Arg76His)	TREML1 (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182095	NM_178174.4(TREML1):c.205C>T (p.Arg69Cys)	TREML1 (R69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182094	NM_178174.4(TREML1):c.167C>T (p.Pro56Leu)	TREML1 (P56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465544	NM_178174.4(TREML1):c.158G>A (p.Arg53Gln)	TREML1 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182098	NM_178174.4(TREML1):c.67C>T (p.Pro23Ser)	TREML1 (P23S)	Single nucleotide variant (missense variant +1 more)	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 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: 24