TREML4[gene] - ClinVar

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Items: 22

	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 1176822	NM_198153.3(TREML4):c.66T>C (p.Gly22=)	TREML4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2222135	NM_198153.3(TREML4):c.131C>T (p.Pro44Leu)	TREML4 (P44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570129	NM_198153.3(TREML4):c.163T>C (p.Cys55Arg)	TREML4 (C55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539919	NM_198153.3(TREML4):c.212A>G (p.Lys71Arg)	TREML4 (K71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252208	NM_198153.3(TREML4):c.220A>T (p.Thr74Ser)	TREML4 (T74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182107	NM_198153.3(TREML4):c.221C>A (p.Thr74Lys)	TREML4 (T74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212169	NM_198153.3(TREML4):c.255C>G (p.Asp85Glu)	TREML4 (D85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328578	NM_198153.3(TREML4):c.311C>T (p.Ser104Leu)	TREML4 (S104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656542	NM_198153.3(TREML4):c.345C>T (p.Ser115=)	TREML4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609618	NM_198153.3(TREML4):c.346G>A (p.Glu116Lys)	TREML4 (E116K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328579	NM_198153.3(TREML4):c.375C>G (p.Ile125Met)	TREML4 (I125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331771	NM_198153.3(TREML4):c.487A>G (p.Ile163Val)	TREML4 (I163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182108	NM_198153.3(TREML4):c.588G>C (p.Lys196Asn)	TREML4 (K196N)	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 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: 22