ClinVar for Gene (Select 27076) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292380	NM_014400.3(LYPD3):c.335G>T (p.Arg112Leu)	LYPD3 (R112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121687	NM_014400.3(LYPD3):c.898G>A (p.Ala300Thr)	LYPD3 (A300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121686	NM_014400.3(LYPD3):c.874G>A (p.Glu292Lys)	LYPD3 (E292K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121685	NM_014400.3(LYPD3):c.868C>T (p.Arg290Trp)	LYPD3 (R290W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121684	NM_014400.3(LYPD3):c.127G>A (p.Gly43Arg)	LYPD3 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121683	NM_014400.3(LYPD3):c.11C>T (p.Ala4Val)	LYPD3 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619807	NM_014400.3(LYPD3):c.167C>T (p.Pro56Leu)	LYPD3 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600926	NM_014400.3(LYPD3):c.213C>G (p.Ile71Met)	LYPD3 (I71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594682	NM_014400.3(LYPD3):c.658C>T (p.Arg220Cys)	LYPD3 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593760	NM_014400.3(LYPD3):c.320A>G (p.Gln107Arg)	LYPD3 (Q107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593067	NM_014400.3(LYPD3):c.82G>A (p.Ala28Thr)	LYPD3 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538665	NM_014400.3(LYPD3):c.566C>T (p.Pro189Leu)	LYPD3 (P189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471470	NM_014400.3(LYPD3):c.580G>A (p.Val194Ile)	LYPD3 (V194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460970	NM_014400.3(LYPD3):c.6C>G (p.Asp2Glu)	LYPD3 (D2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455317	NM_014400.3(LYPD3):c.629C>T (p.Thr210Met)	LYPD3 (T210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338746	NM_014400.3(LYPD3):c.1006C>T (p.Leu336Phe)	LYPD3 (L336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310597	NM_014400.3(LYPD3):c.154G>A (p.Val52Met)	LYPD3 (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305762	NM_014400.3(LYPD3):c.668C>G (p.Ser223Cys)	LYPD3 (S223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296781	NM_014400.3(LYPD3):c.998T>C (p.Leu333Ser)	LYPD3 (L333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293599	NM_014400.3(LYPD3):c.815T>C (p.Met272Thr)	LYPD3 (M272T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808065	GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	CD177, CEACAM8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1526666	GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	CD177, CEACAM8 +19 more	Copy number gain	not specified	GUncertain significance
Select item 980765	GRCh37/hg19 19q13.31(chr19:43834305-44004721)x1	CD177, LYPD3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 780573	NM_014400.3(LYPD3):c.740C>A (p.Thr247Lys)	LYPD3 (T247K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771523	NM_014400.3(LYPD3):c.57G>A (p.Leu19=)	LYPD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769015	NM_014400.3(LYPD3):c.1017C>T (p.Ala339=)	LYPD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687817	GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3	CD177, ETHE1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685142	GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3	CD177, ETHE1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564583	GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4	LYPD3, XRCC1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 38