"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1372517	NM_001909.5(CTSD):c.22C>T (p.Pro8Ser)	CTSD, LOC130005119 (P8S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2832674	NM_001909.5(CTSD):c.21G>C (p.Leu7=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1097698	NM_001909.5(CTSD):c.19C>T (p.Leu7=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 457959	NM_001909.5(CTSD):c.19C>G (p.Leu7Val)	CTSD, LOC130005119 (L7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1062095	NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)	CTSD, LOC130005119 (L6F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2735411	NM_001909.5(CTSD):c.15C>T (p.Ser5=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1424779	NM_001909.5(CTSD):c.14G>T (p.Ser5Ile)	CTSD, LOC130005119 (S5I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205337	NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)	CTSD, LOC130005119 (S5T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2890218	NM_001909.5(CTSD):c.12C>T (p.Ser4=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2194241	NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)	CTSD, LOC130005119 (P3R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1931043	NM_001909.5(CTSD):c.8C>A (p.Pro3His)	CTSD, LOC130005119 (P3H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205353	NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)	CTSD, LOC130005119 (P3L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 799688	NM_001909.5(CTSD):c.6G>A (p.Gln2=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2083460	NM_001909.5(CTSD):c.1A>G (p.Met1Val)	CTSD, LOC130005119 (M1V)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis	GUncertain significance