LAPTM4B[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CCNE2, CDH17 +139 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 775266	NM_018407.4(LAPTM4B):c.48C>T (p.Leu16=)	LAPTM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479163	NM_018407.6(LAPTM4B):c.-152G>A	LAPTM4B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2410603	NM_018407.6(LAPTM4B):c.-138G>A	LAPTM4B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2326134	NM_018407.6(LAPTM4B):c.-75C>T	LAPTM4B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2326135	NM_018407.6(LAPTM4B):c.-74G>C	LAPTM4B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 403028	NM_018407.6(LAPTM4B):c.-67_-52dup	LAPTM4B	Duplication (5 prime UTR variant)	not specified	GBenign
Select item 2396512	NM_018407.6(LAPTM4B):c.-31C>G	LAPTM4B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 2523478	NM_018407.6(LAPTM4B):c.23C>G (p.Thr8Arg)	LAPTM4B (T8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310674	NM_018407.6(LAPTM4B):c.38A>G (p.Asn13Ser)	LAPTM4B (N13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337680	NM_018407.6(LAPTM4B):c.85G>C (p.Gly29Arg)	LAPTM4B (G29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732085	NM_018407.6(LAPTM4B):c.150G>A (p.Pro50=)	LAPTM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2454341	NM_018407.6(LAPTM4B):c.290G>A (p.Arg97His)	LAPTM4B (R97H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544157	NM_018407.6(LAPTM4B):c.300G>T (p.Trp100Cys)	LAPTM4B (W100C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557263	NM_018407.6(LAPTM4B):c.304A>G (p.Ile102Val)	LAPTM4B (I102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616611	NM_018407.6(LAPTM4B):c.439A>G (p.Met147Val)	LAPTM4B (M147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273324	NM_018407.6(LAPTM4B):c.511T>C (p.Tyr171His)	LAPTM4B (Y171H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518368	NM_018407.6(LAPTM4B):c.589A>G (p.Ser197Gly)	LAPTM4B (S197G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222280	NM_018407.6(LAPTM4B):c.596A>G (p.Asp199Gly)	LAPTM4B (D199G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351405	NM_018407.6(LAPTM4B):c.602C>T (p.Thr201Met)	LAPTM4B (T201M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684549	GRCh37/hg19 8q22.1-22.2(chr8:98851219-99092262)x3	ERICH5, LAPTM4B +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 815145	GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3	SDC2, CPQ +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	AARD, ABRA +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	C8orf76, CALB1 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	COLEC10, COMMD5 +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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Items: 56