25502[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 2297775	NM_019083.3(TRMT13):c.5C>A (p.Ala2Glu)	TRMT13 (A2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479274	NM_019083.3(TRMT13):c.55T>C (p.Cys19Arg)	TRMT13 (C19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329072	NM_019083.3(TRMT13):c.64T>A (p.Tyr22Asn)	TRMT13 (Y22N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183018	NM_019083.3(TRMT13):c.71A>G (p.Glu24Gly)	TRMT13 (E24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287348	NM_019083.3(TRMT13):c.116G>C (p.Arg39Thr)	TRMT13 (R39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1233160	NM_019083.3(TRMT13):c.142G>A (p.Ala48Thr)	SASS6, TRMT13 (A48T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1295596	NM_019083.3(TRMT13):c.143C>T (p.Ala48Val)	SASS6, TRMT13 (A48V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2462901	NM_019083.3(TRMT13):c.168A>C (p.Arg56Ser)	TRMT13 (R56S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183017	NM_019083.3(TRMT13):c.328C>T (p.Pro110Ser)	TRMT13 (P110S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550635	NM_019083.3(TRMT13):c.447T>G (p.Asp149Glu)	TRMT13 (D111E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394263	NM_019083.3(TRMT13):c.454A>G (p.Asn152Asp)	TRMT13 (N114D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609297	NM_019083.3(TRMT13):c.585A>T (p.Lys195Asn)	TRMT13 (K181N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494331	NM_019083.3(TRMT13):c.589T>G (p.Ser197Ala)	TRMT13 (S159A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329073	NM_019083.3(TRMT13):c.613A>G (p.Lys205Glu)	TRMT13 (K205E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235208	NM_019083.3(TRMT13):c.818A>G (p.Asp273Gly)	TRMT13 (D273G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329074	NM_019083.3(TRMT13):c.868A>G (p.Arg290Gly)	TRMT13 (R290G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527978	NM_019083.3(TRMT13):c.887C>G (p.Ala296Gly)	TRMT13 (A258G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329075	NM_019083.3(TRMT13):c.911C>T (p.Thr304Ile)	TRMT13 (T266I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183019	NM_019083.3(TRMT13):c.935C>A (p.Ala312Asp)	TRMT13 (A312D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247871	NM_019083.3(TRMT13):c.969G>T (p.Lys323Asn)	TRMT13 (K323N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329076	NM_019083.3(TRMT13):c.977C>T (p.Pro326Leu)	TRMT13 (P326L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183014	NM_019083.3(TRMT13):c.1013A>G (p.His338Arg)	TRMT13 (H324R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242240	NM_019083.3(TRMT13):c.1060C>G (p.Leu354Val)	TRMT13 (L316V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2596545	NM_019083.3(TRMT13):c.1097G>A (p.Arg366Gln)	TRMT13 (R328Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2620809	NM_019083.3(TRMT13):c.1151A>T (p.Asn384Ile)	TRMT13 (N346I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3329078	NM_019083.3(TRMT13):c.1154G>A (p.Ser385Asn)	TRMT13 (S371N +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3329071	NM_019083.3(TRMT13):c.1190G>C (p.Ser397Thr)	TRMT13 (S397T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3183016	NM_019083.3(TRMT13):c.1288C>A (p.Leu430Ile)	LRRC39, TRMT13 (L430I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393090	NM_019083.3(TRMT13):c.1288C>T (p.Leu430Phe)	LRRC39, TRMT13 (L392F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3329079	NM_019083.3(TRMT13):c.1334A>G (p.Gln445Arg)	LRRC39, TRMT13 (Q407R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2274786	NM_019083.3(TRMT13):c.1346G>T (p.Ser449Ile)	LRRC39, TRMT13 (S411I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385602	NM_019083.3(TRMT13):c.1411C>T (p.Pro471Ser)	LRRC39, TRMT13 (P457S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3291621	NM_144620.4(LRRC39):c.976A>G (p.Thr326Ala)	LRRC39, TRMT13 (T326A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 44