ClinVar for Gene (Select 284348) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292388	NM_001031749.3(LYPD5):c.604G>A (p.Asp202Asn)	LYPD5 (D159N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292387	NM_001031749.3(LYPD5):c.144C>A (p.Ser48Arg)	LYPD5 (S5R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121697	NM_001031749.3(LYPD5):c.584C>G (p.Thr195Ser)	LYPD5 (T152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121696	NM_001031749.3(LYPD5):c.556C>T (p.Arg186Trp)	LYPD5 (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121695	NM_001031749.3(LYPD5):c.503G>A (p.Gly168Asp)	LYPD5 (G125D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121694	NM_001031749.3(LYPD5):c.497G>C (p.Gly166Ala)	LYPD5 (G123A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121693	NM_001031749.3(LYPD5):c.238G>C (p.Gly80Arg)	LOC130064620, LYPD5 (G80R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121692	NM_001031749.3(LYPD5):c.199C>A (p.Arg67Ser)	LOC130064620, LYPD5 (R24S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121691	NM_001031749.3(LYPD5):c.172G>T (p.Ala58Ser)	LYPD5 (A15S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121690	NM_001031749.3(LYPD5):c.139C>G (p.Pro47Ala)	LYPD5 (P47A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558267	NM_001031749.3(LYPD5):c.686C>T (p.Thr229Ile)	LYPD5 (T186I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490872	NM_001031749.3(LYPD5):c.637T>C (p.Cys213Arg)	LYPD5 (C213R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 2370881	NM_001031749.3(LYPD5):c.656C>A (p.Thr219Asn)	LYPD5 (T176N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356178	NM_001031749.3(LYPD5):c.415A>G (p.Ile139Val)	LYPD5 (I96V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353590	NM_001031749.3(LYPD5):c.515T>C (p.Val172Ala)	LYPD5 (V129A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311407	NM_001031749.3(LYPD5):c.418G>C (p.Gly140Arg)	LYPD5 (G140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211501	NM_001031749.3(LYPD5):c.7A>G (p.Met3Val)	LYPD5 (M3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715325	NM_001031749.3(LYPD5):c.750A>G (p.Ser250=)	LYPD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 395034	GRCh37/hg19 19q13.31(chr19:44273854-44341333)x3	KCNN4, LYPD5 +1 more	Copy number gain	See cases	GUncertain significance
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28