ClinVar for Gene (Select 51504) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329068	NM_016404.3(TRMT112):c.41G>T (p.Arg14Leu)	TRMT112 (R14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3183007	NM_016404.3(TRMT112):c.46G>C (p.Val16Leu)	TRMT112 (V16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183005	NM_016404.3(TRMT112):c.290C>G (p.Thr97Ser)	TRMT112 (T92S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183004	NM_016404.3(TRMT112):c.184C>T (p.Arg62Cys)	TRMT112 (R62C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183003	NM_016404.3(TRMT112):c.16C>T (p.His6Tyr)	TRMT112 (H6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2608627	NM_016404.3(TRMT112):c.68T>A (p.Leu23Gln)	TRMT112 (L23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513977	NM_012094.5(PRDX5):c.49C>A (p.Leu17Ile)	PRDX5, TRMT112 (L17I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2303661	NM_012094.5(PRDX5):c.55G>C (p.Gly19Arg)	PRDX5, TRMT112 (G19R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290774	NM_016404.3(TRMT112):c.346A>T (p.Met116Leu)	TRMT112 (M111L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 20