"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283827	NM_001851.6(COL9A1):c.1182_1190del (p.390PGP[2])	COL9A1, LOC129996692	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 357809	NM_001851.6(COL9A1):c.1186C>A (p.Pro396Thr)	COL9A1, LOC129996692 (P396T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1613780	NM_001851.6(COL9A1):c.1185C>T (p.Pro395=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1011485	NM_001851.6(COL9A1):c.1184C>T (p.Pro395Leu)	COL9A1, LOC129996692 (P152L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2823283	NM_001851.6(COL9A1):c.1181dup (p.Gly397fs)	COL9A1, LOC129996692 (G154fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1631534	NM_001851.6(COL9A1):c.1182C>G (p.Gly394=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 758230	NM_001851.6(COL9A1):c.1182C>T (p.Gly394=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1426503	NM_001851.6(COL9A1):c.1181G>A (p.Gly394Asp)	COL9A1, LOC129996692 (G151D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008060	NM_001851.6(COL9A1):c.1180G>T (p.Gly394Cys)	COL9A1, LOC129996692 (G151C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993820	NM_001851.6(COL9A1):c.1179T>A (p.Pro393=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1662015	NM_001851.6(COL9A1):c.1179T>C (p.Pro393=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1076939	NM_001851.6(COL9A1):c.1178del (p.Pro393fs)	COL9A1, LOC129996692 (P150fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2059586	NM_001851.6(COL9A1):c.1177C>T (p.Pro393Ser)	COL9A1, LOC129996692 (P150S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1947052	NM_001851.6(COL9A1):c.1177C>G (p.Pro393Ala)	COL9A1, LOC129996692 (P393A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2759989	NM_001851.6(COL9A1):c.1176C>T (p.Pro392=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1372999	NM_001851.6(COL9A1):c.1174C>T (p.Pro392Ser)	COL9A1, LOC129996692 (P392S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1052262	NM_001851.6(COL9A1):c.1172_1173delinsTA (p.Gly391Val)	COL9A1, LOC129996692 (G148V +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 682465	NM_001851.6(COL9A1):c.1173C>T (p.Gly391=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1146294	NM_001851.6(COL9A1):c.1167A>T (p.Pro389=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1043194	NM_001851.6(COL9A1):c.1157G>A (p.Arg386Lys)	COL9A1, LOC129996692 (R143K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669949	NM_001851.6(COL9A1):c.1155G>A (p.Gly385=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2158547	NM_001851.6(COL9A1):c.1152T>A (p.Pro384=)	COL9A1, LOC129996692	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 971435	NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser)	COL9A1, LOC129996692 (P384S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2118944	NM_001851.6(COL9A1):c.1147G>A (p.Asp383Asn)	COL9A1, LOC129996692 (D383N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2859241	NM_001851.6(COL9A1):c.1144-8T>A	COL9A1, LOC129996692	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000467	NM_001851.6(COL9A1):c.1144-14T>C	COL9A1, LOC129996692	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1395640	NM_001851.6(COL9A1):c.1144-19C>T	COL9A1, LOC129996692	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509586	NM_001851.6(COL9A1):c.1144-20G>A	COL9A1, LOC129996692	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign

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Items: 28