54210[Gene ID] - ClinVar

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Items: 33

	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 2403566	NM_018643.5(TREM1):c.683C>T (p.Thr228Met)	TREM1 (T228M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3182092	NM_018643.5(TREM1):c.665C>T (p.Ser222Phe)	TREM1 (S222F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 768088	NM_018643.5(TREM1):c.642C>G (p.Phe214Leu)	TREM1 (F214L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768089	NM_018643.5(TREM1):c.633T>C (p.Ala211=)	TREM1 (L147P)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2681620	NM_018643.5(TREM1):c.626T>C (p.Leu209Pro)	TREM1 (L209P +1 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2656543	NM_018643.5(TREM1):c.546T>C (p.Asp182=)	TREM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2386068	NM_018643.5(TREM1):c.544G>A (p.Asp182Asn)	TREM1 (D182N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524247	NM_018643.5(TREM1):c.533A>G (p.Lys178Arg)	TREM1 (K178R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299283	NM_018643.5(TREM1):c.527C>T (p.Pro176Leu)	TREM1 (P176L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2596094	NM_018643.5(TREM1):c.440C>T (p.Ser147Phe)	TREM1 (S147F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3182091	NM_018643.5(TREM1):c.427T>C (p.Ser143Pro)	TREM1 (S143P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552193	NM_018643.5(TREM1):c.425G>A (p.Gly142Asp)	TREM1 (G142D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 723369	NM_018643.5(TREM1):c.404A>C (p.Lys135Thr)	TREM1 (K135T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3182090	NM_018643.5(TREM1):c.389G>A (p.Arg130His)	TREM1 (R130H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481668	NM_018643.5(TREM1):c.383G>A (p.Arg128His)	TREM1 (R128H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729412	NM_018643.5(TREM1):c.345C>T (p.Ile115=)	TREM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656544	NM_018643.5(TREM1):c.216G>A (p.Arg72=)	TREM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3182089	NM_018643.5(TREM1):c.189G>T (p.Met63Ile)	TREM1 (M63I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352704	NM_018643.5(TREM1):c.181G>A (p.Gly61Arg)	TREM1 (G61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474177	NM_018643.5(TREM1):c.170T>C (p.Ile57Thr)	TREM1 (I57T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182088	NM_018643.5(TREM1):c.131C>T (p.Thr44Met)	TREM1 (T44M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481249	NM_018643.5(TREM1):c.103C>G (p.Gln35Glu)	TREM1 (Q35E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379712	NM_018643.5(TREM1):c.77A>G (p.Glu26Gly)	TREM1 (E26G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280083	NM_018643.5(TREM1):c.53T>G (p.Leu18Arg)	TREM1 (L18R)	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 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 814810	GRCh37/hg19 6p21.1(chr6:41200840-41331797)x1	NCR2, TREML4 +1 more	Copy number loss	not provided	GUncertain significance
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: 33