LYPLA1[gene] - ClinVar

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Items: 40

	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 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 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 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +226 more	Copy number loss	See cases	GPathogenic
Select item 146043	GRCh38/hg38 8q11.23(chr8:53790469-54207499)x3	ATP6V1H, LOC111811969 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2269860	NM_006330.4(LYPLA1):c.625A>T (p.Ser209Cys)	LYPLA1 (S195C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658602	NM_006330.4(LYPLA1):c.510C>T (p.His170=)	LYPLA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459584	NM_006330.4(LYPLA1):c.472G>A (p.Gly158Ser)	LYPLA1 (G109S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 783525	NM_006330.4(LYPLA1):c.457C>T (p.Pro153Ser)	LYPLA1 (P153S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2266390	NM_006330.4(LYPLA1):c.422C>G (p.Ala141Gly)	LYPLA1 (A141G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317742	NM_006330.4(LYPLA1):c.322A>G (p.Ile108Val)	LYPLA1 (I108V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323154	NM_006330.4(LYPLA1):c.308A>T (p.Glu103Val)	LYPLA1 (E54V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233934	NM_006330.4(LYPLA1):c.145A>G (p.Ile49Val)	LYPLA1 (I49V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2312500	NM_006330.4(LYPLA1):c.43C>T (p.Pro15Ser)	LOC130000392, LYPLA1 (P15S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514561	NM_006330.4(LYPLA1):c.37A>G (p.Ile13Val)	LOC130000392, LYPLA1 (I13V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412315	NM_006330.4(LYPLA1):c.7G>A (p.Gly3Ser)	LOC130000392, LYPLA1 (G3S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
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 2684545	GRCh37/hg19 8q11.23(chr8:54906222-55166087)x3	LYPLA1, MRPL15 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684544	GRCh37/hg19 8q11.23(chr8:54906222-55183775)x3	LYPLA1, MRPL15 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684543	GRCh37/hg19 8q11.23(chr8:54798193-55200535)x3	LYPLA1, MRPL15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 832547	NC_000008.10:g.(?_54978308)_(56436786_?)dup	LYPLA1, MRPL15 +3 more	Duplication	not provided	GUncertain significance
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 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	ALKAL1, ATP6V1H +20 more	Copy number gain	not provided	GUncertain significance
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 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	AP3M2, ASH2L +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ATP6V1H, NPBWR1 +36 more	Copy number gain	See cases	GPathogenic

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Items: 40