ClinVar for Gene (Select 127018) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292396	NM_138794.5(LYPLAL1):c.135A>C (p.Leu45Phe)	LYPLAL1 (L45F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292394	NM_138794.5(LYPLAL1):c.271C>G (p.Leu91Val)	LYPLAL1 (L100V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292393	NM_138794.5(LYPLAL1):c.428G>A (p.Gly143Glu)	LYPLAL1 (G127E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3121710	NM_138794.5(LYPLAL1):c.64G>A (p.Ala22Thr)	LOC129932517, LYPLAL1 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121709	NM_138794.5(LYPLAL1):c.486G>T (p.Gln162His)	LYPLAL1 (Q146H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121708	NM_138794.5(LYPLAL1):c.433T>G (p.Phe145Val)	LYPLAL1 (F129V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685839	GRCh37/hg19 1q41(chr1:219125112-219387389)x3	LYPLAL1	Copy number gain	not provided	GUncertain significance
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 2532933	NM_138794.5(LYPLAL1):c.149C>T (p.Thr50Ile)	LYPLAL1 (T12I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513155	NM_138794.5(LYPLAL1):c.224A>G (p.Asn75Ser)	LYPLAL1 (N37S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492753	NM_138794.5(LYPLAL1):c.658A>G (p.Ile220Val)	LYPLAL1 (I204V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488674	NM_138794.5(LYPLAL1):c.71T>C (p.Leu24Pro)	LOC129932517, LYPLAL1 (L24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484117	NM_138794.5(LYPLAL1):c.673A>G (p.Ile225Val)	LYPLAL1 (I174V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425804	NC_000001.10:g.(?_218520044)_(220986760_?)del	MTARC2, RAB3GAP2 +11 more	Deletion	Martsolf syndrome +1 more	GPathogenic
Select item 2390224	NM_138794.5(LYPLAL1):c.39C>G (p.Ile13Met)	LOC129932517, LYPLAL1 (I13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388789	NM_138794.5(LYPLAL1):c.545T>C (p.Val182Ala)	LYPLAL1 (V144A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374980	NM_138794.5(LYPLAL1):c.162A>G (p.Ile54Met)	LYPLAL1 (I16M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311408	NM_138794.5(LYPLAL1):c.491G>A (p.Ser164Asn)	LYPLAL1 (S126N +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303039	NM_138794.5(LYPLAL1):c.481C>T (p.Leu161Phe)	LYPLAL1 (L161F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286491	NM_138794.5(LYPLAL1):c.29A>C (p.Gln10Pro)	LOC129932517, LYPLAL1 (Q10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207545	NM_138794.5(LYPLAL1):c.254A>G (p.Asn85Ser)	LYPLAL1 (N47S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1341296	GRCh37/hg19 1q41(chr1:219125125-219480797)x1	LYPLAL1	Copy number loss	not provided	GUncertain significance
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199384	Single allele	TGFB2, ESRRG +4 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199383	Single allele	RRP15, TGFB2 +8 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 759907	NM_138794.5(LYPLAL1):c.70C>T (p.Leu24=)	LOC129932517, LYPLAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714102	NM_138794.5(LYPLAL1):c.589C>G (p.Leu197Val)	LYPLAL1 (L146V +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688023	GRCh37/hg19 1q41(chr1:219379258-222049547)x3	BPNT1, C1orf115 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443367	GRCh37/hg19 1q41(chr1:219089280-219951094)x3	LYPLAL1	Copy number gain	See cases	GLikely benign
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 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 224871	Single allele	EPRS1, SLC30A10 +6 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 224870	Single allele	TGFB2, USH2A +19 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 152356	GRCh38/hg38 1q41(chr1:218712139-219548762)x1	LINC01710, LOC122152301 +14 more	Copy number loss	See cases	GUncertain significance
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 60081	GRCh38/hg38 1q41(chr1:216518607-219827290)x1	ESRRG, GPATCH2 +55 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 55