LYPLA1-TCEA1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	GPIHBP1, GPR20 +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	CYP11B2, CYP7A1 +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	ADAM28, ADRA1A +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	RB1CC1, RBIS +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 146043	GRCh38/hg38 8q11.23(chr8:53790469-54207499)x3	ATP6V1H, LOC111811969 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2242460	NM_006756.4(TCEA1):c.877G>C (p.Glu293Gln)	LYPLA1-TCEA1, TCEA1 (E293Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615153	NM_006756.4(TCEA1):c.836G>A (p.Arg279His)	LYPLA1-TCEA1, TCEA1 (R258H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3454010	NM_006756.4(TCEA1):c.781T>C (p.Phe261Leu)	LYPLA1-TCEA1, TCEA1 (F389L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175040	NM_006756.4(TCEA1):c.613A>G (p.Asn205Asp)	LYPLA1-TCEA1, TCEA1 (N184D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516025	NM_006756.4(TCEA1):c.481A>G (p.Ile161Val)	LYPLA1-TCEA1, TCEA1 (I140V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3454009	NM_006756.4(TCEA1):c.405C>A (p.Ser135Arg)	LYPLA1-TCEA1, TCEA1 (S100R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3454011	NM_006756.4(TCEA1):c.391C>T (p.Pro131Ser)	LYPLA1-TCEA1, TCEA1 (P259S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456703	NM_006756.4(TCEA1):c.361A>G (p.Asn121Asp)	LYPLA1-TCEA1, TCEA1 (N100D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520019	NM_006756.4(TCEA1):c.345C>A (p.Asn115Lys)	LYPLA1-TCEA1, TCEA1 (N115K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469365	NM_006756.4(TCEA1):c.335A>G (p.Asn112Ser)	LYPLA1-TCEA1, TCEA1 (N91S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324910	NM_006756.4(TCEA1):c.295A>C (p.Asn99His)	LYPLA1-TCEA1, TCEA1 (N78H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175039	NM_006756.4(TCEA1):c.283A>G (p.Ile95Val)	LYPLA1-TCEA1, TCEA1 (I95V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324909	NM_006756.4(TCEA1):c.255C>A (p.Asp85Glu)	LYPLA1-TCEA1, TCEA1 (D85E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175038	NM_006756.4(TCEA1):c.227T>C (p.Leu76Ser)	LYPLA1-TCEA1, TCEA1 (L55S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175037	NM_006756.4(TCEA1):c.157A>G (p.Ile53Val)	LYPLA1-TCEA1, TCEA1 (I53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3541388	NM_006330.4(LYPLA1):c.643A>G (p.Met215Val)	LOC133039971, LYPLA1 +1 more (M166V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269860	NM_006330.4(LYPLA1):c.625A>T (p.Ser209Cys)	LYPLA1, LYPLA1-TCEA1 (S195C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3541389	NM_006330.4(LYPLA1):c.583C>G (p.Pro195Ala)	LYPLA1, LYPLA1-TCEA1 (P179A +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3121703	NM_006330.4(LYPLA1):c.529G>A (p.Val177Ile)	LYPLA1, LYPLA1-TCEA1 (V128I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658602	NM_006330.4(LYPLA1):c.510C>T (p.His170=)	LYPLA1, LYPLA1-TCEA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459584	NM_006330.4(LYPLA1):c.472G>A (p.Gly158Ser)	LYPLA1, LYPLA1-TCEA1 (G109S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 783525	NM_006330.4(LYPLA1):c.457C>T (p.Pro153Ser)	LYPLA1, LYPLA1-TCEA1 (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, LYPLA1-TCEA1 (A141G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317742	NM_006330.4(LYPLA1):c.322A>G (p.Ile108Val)	LYPLA1, LYPLA1-TCEA1 (I108V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323154	NM_006330.4(LYPLA1):c.308A>T (p.Glu103Val)	LYPLA1, LYPLA1-TCEA1 (E54V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233934	NM_006330.4(LYPLA1):c.145A>G (p.Ile49Val)	LYPLA1, LYPLA1-TCEA1 (I49V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121704	NM_006330.4(LYPLA1):c.98C>T (p.Thr33Ile)	LYPLA1, LYPLA1-TCEA1 (T33I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312500	NM_006330.4(LYPLA1):c.43C>T (p.Pro15Ser)	LOC130000392, LYPLA1 +1 more (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514561	NM_006330.4(LYPLA1):c.37A>G (p.Ile13Val)	LOC130000392, LYPLA1 +1 more (I13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412315	NM_006330.4(LYPLA1):c.7G>A (p.Gly3Ser)	LOC130000392, LYPLA1 +1 more (G3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 42