QTRT1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	ANGPTL6, AP1M2 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	AP1M2, ATG4D +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2604191	NM_031209.3(QTRT1):c.52C>T (p.Arg18Trp)	QTRT1 (R18W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474732	NM_031209.3(QTRT1):c.178G>A (p.Glu60Lys)	QTRT1 (E60K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238458	NM_031209.3(QTRT1):c.185T>G (p.Leu62Arg)	QTRT1 (L62R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357861	NM_031209.3(QTRT1):c.239G>A (p.Arg80Lys)	QTRT1 (R80K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620427	NM_031209.3(QTRT1):c.311C>T (p.Thr104Met)	QTRT1 (T104M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785607	NM_031209.3(QTRT1):c.313-4T>G	QTRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2271146	NM_031209.3(QTRT1):c.383G>C (p.Arg128Pro)	QTRT1 (R128P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296599	NM_031209.3(QTRT1):c.421G>C (p.Glu141Gln)	QTRT1 (E141Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379024	NM_031209.3(QTRT1):c.509G>A (p.Arg170His)	QTRT1 (R170H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462530	NM_031209.3(QTRT1):c.539G>A (p.Arg180His)	QTRT1 (R180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217138	NM_031209.3(QTRT1):c.550C>T (p.Arg184Trp)	QTRT1 (R184W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365390	NM_031209.3(QTRT1):c.572G>A (p.Arg191Gln)	QTRT1 (R191Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2398851	NM_031209.3(QTRT1):c.574C>T (p.Pro192Ser)	QTRT1 (P192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249020	NM_031209.3(QTRT1):c.653C>G (p.Thr218Ser)	QTRT1 (T218S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332051	NM_031209.3(QTRT1):c.710C>T (p.Ser237Leu)	QTRT1 (S237L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599007	NM_031209.3(QTRT1):c.782T>C (p.Val261Ala)	QTRT1 (V261A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409348	NM_031209.3(QTRT1):c.841G>A (p.Val281Ile)	QTRT1 (V281I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714880	NM_031209.3(QTRT1):c.862-10T>C	QTRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777442	NM_031209.3(QTRT1):c.901T>C (p.Leu301=)	QTRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469336	NM_031209.3(QTRT1):c.952A>C (p.Thr318Pro)	QTRT1 (T318P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461932	NM_031209.3(QTRT1):c.1069A>G (p.Met357Val)	QTRT1 (M357V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224833	NM_031209.3(QTRT1):c.1074C>A (p.Ser358Arg)	QTRT1 (S358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476724	NM_031209.3(QTRT1):c.1117G>A (p.Val373Met)	QTRT1 (V373M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520147	NM_031209.3(QTRT1):c.1144G>A (p.Gly382Arg)	QTRT1 (G382R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290874	NM_031209.3(QTRT1):c.1208G>A (p.Gly403Asp)	QTRT1 (G403D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	AP1M2, ATG4D +10 more	Copy number gain	not provided	GUncertain significance
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	PRKCSH, PTGER1 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ICAM5 +27 more	Copy number loss	See cases	GPathogenic

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Items: 44