"Ambry Genetics"[submitter] AND "PNLDC1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2602335	NM_001271862.2(PNLDC1):c.121C>T (p.Pro41Ser)	PNLDC1 (P30S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526426	NM_001271862.2(PNLDC1):c.230T>C (p.Ile77Thr)	PNLDC1 (I66T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598997	NM_001271862.2(PNLDC1):c.290C>T (p.Thr97Met)	PNLDC1 (T97M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464829	NM_001271862.2(PNLDC1):c.401A>G (p.Asn134Ser)	PNLDC1 (N123S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617124	NM_001271862.2(PNLDC1):c.402T>G (p.Asn134Lys)	PNLDC1 (N123K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543762	NM_001271862.2(PNLDC1):c.517G>C (p.Glu173Gln)	PNLDC1 (E162Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556645	NM_001271862.2(PNLDC1):c.523G>A (p.Ala175Thr)	PNLDC1 (A164T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219793	NM_001271862.2(PNLDC1):c.640G>C (p.Val214Leu)	PNLDC1 (V214L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491566	NM_001271862.2(PNLDC1):c.701G>A (p.Arg234Gln)	PNLDC1 (R234Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381175	NM_001271862.2(PNLDC1):c.879T>A (p.Asn293Lys)	PNLDC1 (N282K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520287	NM_001271862.2(PNLDC1):c.880A>T (p.Ile294Phe)	PNLDC1 (I283F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620728	NM_001271862.2(PNLDC1):c.908A>T (p.Asp303Val)	PNLDC1 (D292V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590728	NM_001271862.2(PNLDC1):c.1040C>T (p.Ala347Val)	PNLDC1 (A336V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248020	NM_001271862.2(PNLDC1):c.1070A>C (p.Lys357Thr)	PNLDC1 (K357T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225660	NM_001271862.2(PNLDC1):c.1087G>A (p.Ala363Thr)	PNLDC1 (A352T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292020	NM_001271862.2(PNLDC1):c.1172C>T (p.Pro391Leu)	PNLDC1 (P380L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343778	NM_001271862.2(PNLDC1):c.1174G>A (p.Glu392Lys)	PNLDC1 (E381K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454308	NM_001271862.2(PNLDC1):c.1537T>A (p.Cys513Ser)	PNLDC1 (C513S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance