"Athena Diagnostics"[submitter] AND "COL18A1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445614	NM_001379500.1(COL18A1):c.107-12656C>T	COL18A1 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 518320	NM_001379500.1(COL18A1):c.107-12592T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 447126	NM_001379500.1(COL18A1):c.107-12381G>A	COL18A1 (G111R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 447131	NM_001379500.1(COL18A1):c.107-12197G>A	COL18A1 (R172H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 447123	NM_001379500.1(COL18A1):c.295C>T (p.Arg99Trp)	COL18A1 (R279W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 447132	NM_001379500.1(COL18A1):c.612C>T (p.Phe204=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 447133	NM_001379500.1(COL18A1):c.667C>T (p.Leu223=)	COL18A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 447134	NM_001379500.1(COL18A1):c.738+5G>T	COL18A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 447135	NM_001379500.1(COL18A1):c.803C>T (p.Ala268Val)	COL18A1 (A448V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 447110	NM_001379500.1(COL18A1):c.1072G>C (p.Gly358Arg)	COL18A1 (G538R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 447111	NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 447112	NM_001379500.1(COL18A1):c.1341_1358del (p.Gln451_Pro456del)	COL18A1	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 447113	NM_001379500.1(COL18A1):c.1343_1351dup (p.Pro448_Pro450dup)	COL18A1	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 447114	NM_001379500.1(COL18A1):c.1593del (p.Pro534fs)	COL18A1 (P949fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 447115	NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3])	COL18A1	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447116	NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr)	COL18A1 (A808T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 447117	NM_001379500.1(COL18A1):c.1998C>T (p.Gly666=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 261898	NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)	COL18A1 (P886R +1 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +3 more	GBenign/Likely benign
Select item 447118	NM_001379500.1(COL18A1):c.2158-9C>T	COL18A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 340251	NM_001379500.1(COL18A1):c.2623A>G (p.Asn875Asp)	COL18A1 (N1055D +1 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +3 more	GUncertain significance
Select item 447119	NM_001379500.1(COL18A1):c.2684-9C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 447121	NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg)	SLC19A1, COL18A1 (G1108R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 447120	NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg)	COL18A1, SLC19A1 (G1108R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 447122	NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 447124	NM_001379500.1(COL18A1):c.2979A>C (p.Pro993=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 447125	NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 261908	NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 447127	NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg)	COL18A1, SLC19A1 (G1313R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 447128	NM_001379500.1(COL18A1):c.3510G>A (p.Ala1170=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 447129	NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)	COL18A1, SLC19A1 (R1399H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17118	NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	COL18A1, SLC19A1 (D1437N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 447130	NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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Items: 32