"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL13A1"[ - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 729637	NM_001368882.1(COL13A1):c.6A>G (p.Val2=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3058234	NM_001368882.1(COL13A1):c.66G>A (p.Ala22=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related disorder	GLikely benign
Select item 709699	NM_001368882.1(COL13A1):c.67C>A (p.Pro23Thr)	COL13A1 (P23T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1396387	NM_001368882.1(COL13A1):c.221G>T (p.Arg74Leu)	COL13A1 (R74L)	Single nucleotide variant (missense variant +1 more)	COL13A1-related disorder +2 more	GUncertain significance
Select item 784160	NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu)	COL13A1 (R79L)	Single nucleotide variant (missense variant +1 more)	COL13A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 734155	NM_001368882.1(COL13A1):c.237C>A (p.Arg79=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1903980	NM_001368882.1(COL13A1):c.317G>A (p.Arg106Lys)	COL13A1 (R106K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 782866	NM_001368882.1(COL13A1):c.358C>T (p.Pro120Ser)	COL13A1 (P120S)	Single nucleotide variant (missense variant +1 more)	COL13A1-related disorder +1 more	GBenign
Select item 744671	NM_001368882.1(COL13A1):c.390C>T (p.Pro130=)	COL13A1	Single nucleotide variant (synonymous variant +2 more)	COL13A1-related disorder +1 more	GBenign/Likely benign
Select item 740257	NM_001368882.1(COL13A1):c.431G>A (p.Arg144His)	COL13A1 (R144H)	Single nucleotide variant (missense variant +1 more)	COL13A1-related disorder +1 more	GLikely benign
Select item 736374	NM_001368882.1(COL13A1):c.477C>T (p.Asp159=)	COL13A1	Single nucleotide variant (synonymous variant +2 more)	COL13A1-related disorder +1 more	GLikely benign
Select item 777193	NM_001368882.1(COL13A1):c.478G>A (p.Ala160Thr)	COL13A1 (A130T +3 more)	Single nucleotide variant (missense variant +2 more)	COL13A1-related disorder +1 more	GBenign
Select item 3034514	NM_001368882.1(COL13A1):c.540T>C (p.Pro180=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related disorder	GLikely benign
Select item 1579535	NM_001368882.1(COL13A1):c.555C>T (p.Pro185=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related disorder +1 more	GBenign/Likely benign
Select item 756534	NM_001368882.1(COL13A1):c.567C>T (p.Asp189=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related disorder +1 more	GLikely benign
Select item 715510	NM_001368882.1(COL13A1):c.570C>G (p.Gly190=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related disorder +1 more	GLikely benign
Select item 730265	NM_001368882.1(COL13A1):c.685-7_685-6del	COL13A1	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 739613	NM_001368882.1(COL13A1):c.753C>T (p.Gly251=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related disorder +1 more	GBenign/Likely benign
Select item 781674	NM_001368882.1(COL13A1):c.754G>A (p.Glu252Lys)	COL13A1 (E205K +8 more)	Single nucleotide variant (missense variant)	COL13A1-related disorder +1 more	GBenign/Likely benign
Select item 2900729	NM_001368882.1(COL13A1):c.798C>G (p.Gly266=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related disorder +1 more	GLikely benign
Select item 1584523	NM_001368882.1(COL13A1):c.912C>T (p.His304=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 725153	NM_001368882.1(COL13A1):c.933C>T (p.Gly311=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 708942	NM_001368882.1(COL13A1):c.975C>A (p.Pro325=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related disorder +1 more	GBenign/Likely benign
Select item 2059354	NM_001368882.1(COL13A1):c.1026+8T>A	COL13A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2637087	NM_001368882.1(COL13A1):c.1178G>C (p.Gly393Ala)	COL13A1 (G172A +9 more)	Single nucleotide variant (missense variant)	COL13A1-related disorder	GUncertain significance
Select item 3053066	NM_001368882.1(COL13A1):c.1221A>C (p.Pro407=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related disorder	GLikely benign
Select item 1568196	NM_001368882.1(COL13A1):c.1518C>T (p.His506=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related disorder +1 more	GLikely benign
Select item 774471	NM_001368882.1(COL13A1):c.1596A>T (p.Gly532=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related disorder +1 more	GBenign/Likely benign
Select item 748916	NM_001368882.1(COL13A1):c.1770+10G>A	COL13A1	Single nucleotide variant (intron variant)	COL13A1-related disorder +1 more	GLikely benign
Select item 3053229	NM_001368882.1(COL13A1):c.1914+10A>G	COL13A1	Single nucleotide variant (intron variant)	COL13A1-related disorder	GLikely benign
Select item 3032604	NM_001368882.1(COL13A1):c.1921C>T (p.Pro641Ser)	COL13A1 (P393S +15 more)	Single nucleotide variant (missense variant)	COL13A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 708794	NM_001368882.1(COL13A1):c.2118G>A (p.Ala706=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related disorder +1 more	GLikely benign

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Items: 32