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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138279	NM_018109.4(MTPAP):c.115G>T (p.Asp39Tyr)	LOC130003598, MTPAP (D39Y)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1491509	NM_018109.4(MTPAP):c.112A>G (p.Lys38Glu)	LOC130003598, MTPAP (K38E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2107009	NM_018109.4(MTPAP):c.110C>T (p.Ala37Val)	LOC130003598, MTPAP (A37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515231	NM_018109.4(MTPAP):c.100G>C (p.Gly34Arg)	LOC130003598, MTPAP (G34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167850	NM_018109.4(MTPAP):c.92G>A (p.Ser31Asn)	LOC130003598, MTPAP (S31N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2071495	NM_018109.4(MTPAP):c.50G>T (p.Arg17Leu)	LOC130003598, MTPAP (R17L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959144	NM_018109.4(MTPAP):c.47C>G (p.Ala16Gly)	LOC130003598, MTPAP (A16G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986002	NM_018109.4(MTPAP):c.33T>C (p.Arg11=)	LOC130003598, MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966988	NM_018109.4(MTPAP):c.30C>T (p.Thr10=)	LOC130003598, MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022712	NM_018109.4(MTPAP):c.29C>G (p.Thr10Ser)	LOC130003598, MTPAP (T10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617222	NM_018109.4(MTPAP):c.24C>A (p.Leu8=)	LOC130003598, MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427104	NM_018109.4(MTPAP):c.22C>G (p.Leu8Val)	LOC130003598, MTPAP (L8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164338	NM_018109.4(MTPAP):c.17T>C (p.Val6Ala)	LOC130003598, MTPAP (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1992581	NM_018109.4(MTPAP):c.15C>T (p.Gly5=)	LOC130003598, MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942118	NM_018109.4(MTPAP):c.15C>G (p.Gly5=)	LOC130003598, MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493195	NM_018109.4(MTPAP):c.13G>A (p.Gly5Ser)	LOC130003598, MTPAP (G5S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1895781	NM_018109.4(MTPAP):c.12C>A (p.Pro4=)	LOC130003598, MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign