ClinVar for Gene (Select 7805) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290109	NM_006762.3(LAPTM5):c.739T>A (p.Ser247Thr)	LAPTM5 (S247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117811	NM_006762.3(LAPTM5):c.91A>G (p.Met31Val)	LAPTM5 (M31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117810	NM_006762.3(LAPTM5):c.614T>C (p.Met205Thr)	LAPTM5 (M205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117809	NM_006762.3(LAPTM5):c.197G>C (p.Ser66Thr)	LAPTM5 (S66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117808	NM_006762.3(LAPTM5):c.102G>T (p.Leu34Phe)	LAPTM5 (L34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2623157	NM_006762.3(LAPTM5):c.172C>T (p.Leu58Phe)	LAPTM5 (L58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537739	NM_006762.3(LAPTM5):c.626T>C (p.Val209Ala)	LAPTM5 (V209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466064	NM_006762.3(LAPTM5):c.458G>C (p.Ser153Thr)	LAPTM5 (S153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456516	NM_006762.3(LAPTM5):c.10C>G (p.Arg4Gly)	LAPTM5, LOC129929973 (R4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411297	NM_006762.3(LAPTM5):c.11G>A (p.Arg4His)	LAPTM5, LOC129929973 (R4H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398576	NM_006762.3(LAPTM5):c.52C>T (p.Arg18Cys)	LAPTM5, LOC129929973 (R18C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2361504	NM_006762.3(LAPTM5):c.754G>T (p.Gly252Trp)	LAPTM5 (G252W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331666	NM_006762.3(LAPTM5):c.735G>C (p.Leu245Phe)	LAPTM5 (L245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322885	NM_006762.3(LAPTM5):c.251T>C (p.Val84Ala)	LAPTM5 (V84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321153	NM_006762.3(LAPTM5):c.662C>T (p.Ser221Leu)	LAPTM5 (S221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300588	NM_006762.3(LAPTM5):c.428A>G (p.Asp143Gly)	LAPTM5 (D143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298533	NM_006762.3(LAPTM5):c.10C>T (p.Arg4Cys)	LAPTM5, LOC129929973 (R4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284478	NM_006762.3(LAPTM5):c.11G>C (p.Arg4Pro)	LAPTM5, LOC129929973 (R4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442911	GRCh37/hg19 1p35.2(chr1:30242068-31367845)x4	LAPTM5, MATN1 +1 more	Copy number gain	See cases	GUncertain significance
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
Select item 154396	GRCh38/hg38 1p35.3-35.2(chr1:29274476-31126076)x1	LAPTM5, LINC01648 +64 more	Copy number loss	See cases	GPathogenic
Select item 153108	GRCh38/hg38 1p35.3-35.2(chr1:29860227-30864901)x3	LAPTM5, LINC01648 +39 more	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31