ClinVar for Gene (Select 5329) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307280	NM_002659.4(PLAUR):c.155G>T (p.Arg52Leu)	PLAUR (R52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307279	NM_002659.4(PLAUR):c.380G>C (p.Cys127Ser)	PLAUR (C127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307278	NM_002659.4(PLAUR):c.417C>G (p.Ser139Arg)	PLAUR (S139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214315	NM_002659.4(PLAUR):c.962T>G (p.Leu321Arg)	PLAUR (L272R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214314	NM_002659.4(PLAUR):c.721A>G (p.Met241Val)	PLAUR (M196V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214313	NM_002659.4(PLAUR):c.611T>C (p.Leu204Pro)	PLAUR (L159P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214312	NM_002659.4(PLAUR):c.239G>C (p.Arg80Pro)	PLAUR (R80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214311	NM_002659.4(PLAUR):c.176A>T (p.Glu59Val)	PLAUR (E59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214310	NM_002659.4(PLAUR):c.167A>T (p.Glu56Val)	PLAUR (E56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049622	NM_002659.4(PLAUR):c.281G>A (p.Gly94Glu)	PLAUR (G94E)	Single nucleotide variant (missense variant)	PLAUR-related disorder	GLikely benign
Select item 2607848	NM_002659.4(PLAUR):c.269A>G (p.Glu90Gly)	PLAUR (E90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596135	NM_002659.4(PLAUR):c.261C>A (p.Ser87Arg)	PLAUR (S87R)	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 2387367	NM_002659.4(PLAUR):c.121C>G (p.Leu41Val)	PLAUR (L41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385664	NM_002659.4(PLAUR):c.635A>G (p.Asn212Ser)	PLAUR (N212S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379270	NM_002659.4(PLAUR):c.598G>A (p.Glu200Lys)	PLAUR (E200K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322952	NM_002659.4(PLAUR):c.218C>A (p.Thr73Asn)	PLAUR (T73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275673	NM_002659.4(PLAUR):c.640C>T (p.Arg214Cys)	PLAUR (R214C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256392	NM_002659.4(PLAUR):c.490C>T (p.Arg164Cys)	PLAUR (R164C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254328	NM_002659.4(PLAUR):c.16C>G (p.Leu6Val)	LOC130064606, PLAUR (L6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253495	NM_002659.4(PLAUR):c.989G>T (p.Gly330Val)	PLAUR (G330V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247581	NM_002659.4(PLAUR):c.268G>A (p.Glu90Lys)	PLAUR (E90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246391	NM_002659.4(PLAUR):c.499C>T (p.Arg167Cys)	PLAUR (R167C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245572	NM_002659.4(PLAUR):c.115T>G (p.Cys39Gly)	PLAUR (C39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244780	NM_002659.4(PLAUR):c.23C>T (p.Pro8Leu)	LOC130064606, PLAUR (P8L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787140	NM_002659.4(PLAUR):c.744C>T (p.Thr248=)	PLAUR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782626	NM_002659.4(PLAUR):c.802A>G (p.Met268Val)	PLAUR (M219V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773084	NM_002659.4(PLAUR):c.753C>T (p.His251=)	PLAUR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 771219	NM_002659.4(PLAUR):c.24G>A (p.Pro8=)	LOC130064606, PLAUR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 754228	NM_002659.4(PLAUR):c.528G>A (p.Pro176=)	PLAUR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741417	NM_002659.4(PLAUR):c.536A>G (p.Asn179Ser)	PLAUR (N179S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 728077	NM_002659.4(PLAUR):c.828C>T (p.Asp276=)	PLAUR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714141	NM_002659.4(PLAUR):c.476G>A (p.Arg159His)	PLAUR (R159H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 712815	NM_002659.4(PLAUR):c.55+6G>T	LOC130064606, PLAUR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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

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Links from Gene

Items: 41