ClinVar for Gene (Select 340205) - ClinVar

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

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 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: 23