PLD5[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2346780	NM_001372062.1(PLD5):c.1606G>A (p.Val536Ile)	PLD5 (V328I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225180	NM_001372062.1(PLD5):c.1579G>A (p.Asp527Asn)	PLD5 (D527N +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276696	NM_001372062.1(PLD5):c.1442G>A (p.Ser481Asn)	PLD5 (S419N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308125	NM_001372062.1(PLD5):c.1436A>G (p.Asn479Ser)	PLD5 (N271S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236500	NM_001372062.1(PLD5):c.1136G>A (p.Arg379Gln)	PLD5 (R287Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324683	NM_001372062.1(PLD5):c.1103G>A (p.Arg368Lys)	PLD5 (R160K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614933	NM_001372062.1(PLD5):c.1030G>C (p.Val344Leu)	PLD5 (V282L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369114	NM_001372062.1(PLD5):c.1009A>G (p.Lys337Glu)	PLD5 (K129E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307436	NM_001372062.1(PLD5):c.685C>G (p.Gln229Glu)	PLD5 (Q21E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343273	NM_001372062.1(PLD5):c.637G>A (p.Ala213Thr)	PLD5 (A213T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214673	NM_001372062.1(PLD5):c.557T>C (p.Val186Ala)	PLD5 (V124A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214672	NM_001372062.1(PLD5):c.503G>A (p.Arg168His)	PLD5 (R168H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214671	NM_001372062.1(PLD5):c.443A>C (p.Asp148Ala)	PLD5 (D56A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284231	NM_001372062.1(PLD5):c.434A>G (p.Lys145Arg)	PLD5 (K53R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481322	NM_001372062.1(PLD5):c.280G>A (p.Glu94Lys)	PLD5 (E94K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214670	NM_001372062.1(PLD5):c.265G>C (p.Val89Leu)	PLD5 (V27L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268344	NM_001372062.1(PLD5):c.227G>T (p.Cys76Phe)	PLD5 (C14F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640211	NM_001372062.1(PLD5):c.220C>T (p.Leu74=)	PLD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 221688	GRCh38/hg38 1q43(chr1:242366167-242391262)x1	PLD5	Copy number loss	Premature ovarian failure	GBenign
Select item 3214668	NM_001372062.1(PLD5):c.137A>C (p.Gln46Pro)	PLD5 (Q46P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376626	NM_001372062.1(PLD5):c.73C>T (p.Arg25Cys)	PLD5 (R25C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307435	NM_001372062.1(PLD5):c.56A>C (p.Gln19Pro)	PLD5 (Q19P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534440	NM_001372062.1(PLD5):c.45G>C (p.Glu15Asp)	PLD5 (E15D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1809364	GRCh37/hg19 1q43(chr1:242534486-242646475)x1	PLD5	Copy number loss	not provided	GUncertain significance
Select item 1807890	GRCh37/hg19 1q43(chr1:242403224-242512725)x1	PLD5	Copy number loss	not provided	GUncertain significance
Select item 814190	GRCh37/hg19 1q43(chr1:242200571-242466974)x1	PLD5	Copy number loss	not provided	GUncertain significance
Select item 638140	GRCh37/hg19 1q43(chr1:242292690-243094146)x4	PLD5	Copy number gain	See cases	GLikely benign
Select item 442179	GRCh37/hg19 1q43(chr1:242401835-243027981)x1	PLD5	Copy number loss	See cases	GLikely benign

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Items: 28