"COL9A1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1153949	NM_001851.6(COL9A1):c.2754G>A (p.Gly918=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	COL9A1-related disorder +1 more	GLikely benign
Select item 284657	NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)	COL9A1 (D862A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2637336	NM_001851.6(COL9A1):c.2485G>A (p.Gly829Ser)	COL9A1 (G537S +3 more)	Single nucleotide variant (missense variant +1 more)	COL9A1-related disorder	GUncertain significance
Select item 166950	NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)	COL9A1 (P747R +2 more)	Single nucleotide variant (missense variant +2 more)	COL9A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1472935	NM_001851.6(COL9A1):c.2225G>A (p.Gly742Asp)	COL9A1 (G499D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2630192	NM_001851.6(COL9A1):c.2074G>A (p.Glu692Lys)	COL9A1 (E449K +2 more)	Single nucleotide variant (missense variant +1 more)	COL9A1-related disorder	GUncertain significance
Select item 1093506	NM_001851.6(COL9A1):c.1554T>C (p.Asp518=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	COL9A1-related disorder +1 more	GLikely benign
Select item 854628	NM_001851.6(COL9A1):c.1504-3C>T	COL9A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1097342	NM_001851.6(COL9A1):c.1465G>C (p.Asp489His)	COL9A1 (D246H +1 more)	Single nucleotide variant (missense variant +1 more)	COL9A1-related disorder +1 more	GLikely benign
Select item 1455800	NM_001851.6(COL9A1):c.1458G>C (p.Arg486=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1164419	NM_001851.6(COL9A1):c.1342-14dup	COL9A1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3036119	NM_001851.6(COL9A1):c.1342-7T>G	COL9A1	Single nucleotide variant (intron variant)	COL9A1-related disorder	GLikely benign
Select item 3035527	NM_001851.6(COL9A1):c.1342-8_1342-7del	COL9A1	Deletion (intron variant)	COL9A1-related disorder	GLikely benign
Select item 1661086	NM_001851.6(COL9A1):c.1256G>A (p.Arg419His)	COL9A1 (R176H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1076939	NM_001851.6(COL9A1):c.1178del (p.Pro393fs)	COL9A1, LOC129996692 (P150fs +1 more)	Deletion (frameshift variant +1 more)	COL9A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1976167	NM_001851.6(COL9A1):c.1143+10A>C	COL9A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 386375	NM_001851.6(COL9A1):c.1053G>A (p.Ser351=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	COL9A1-related disorder +2 more	GBenign/Likely benign
Select item 1085901	NM_001851.6(COL9A1):c.999C>T (p.Ser333=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 797140	NM_001851.6(COL9A1):c.976-10G>T	COL9A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 199071	NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)	COL9A1 (G302S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 357811	NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)	COL9A1 (P301L +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +4 more	GConflicting classifications of pathogenicity
Select item 851094	NM_001851.6(COL9A1):c.808C>T (p.Pro270Ser)	COL9A1 (P270S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 517703	NM_001851.6(COL9A1):c.795C>G (p.Thr265=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	COL9A1-related disorder +1 more	GLikely benign
Select item 3057004	NM_001851.6(COL9A1):c.781-137G>A	COL9A1	Single nucleotide variant (5 prime UTR variant +2 more)	COL9A1-related disorder	GLikely benign
Select item 681732	NM_001851.6(COL9A1):c.780+7C>A	COL9A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1166536	NM_001851.6(COL9A1):c.674A>T (p.Asp225Val)	COL9A1 (D225V)	Single nucleotide variant (missense variant)	COL9A1-related disorder +2 more	GBenign/Likely benign
Select item 3031297	NM_001851.6(COL9A1):c.654T>A (p.Ala218=)	COL9A1	Single nucleotide variant (synonymous variant)	COL9A1-related disorder	GLikely benign
Select item 1103463	NM_001851.6(COL9A1):c.621G>A (p.Lys207=)	COL9A1	Single nucleotide variant (synonymous variant)	COL9A1-related disorder +1 more	GLikely benign
Select item 2630150	NM_001851.6(COL9A1):c.619A>G (p.Lys207Glu)	COL9A1 (K207E)	Single nucleotide variant (missense variant)	COL9A1-related disorder	GUncertain significance
Select item 833926	NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)	COL9A1 (V154L)	Single nucleotide variant (missense variant)	COL9A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1469043	NM_001851.6(COL9A1):c.441T>G (p.Asn147Lys)	COL9A1 (N147K)	Single nucleotide variant (missense variant)	COL9A1-related disorder +1 more	GUncertain significance
Select item 3061492	NM_001851.6(COL9A1):c.167-4A>T	COL9A1	Single nucleotide variant (intron variant)	COL9A1-related disorder	GLikely benign
Select item 2637121	NM_001851.6(COL9A1):c.154G>C (p.Asp52His)	COL9A1 (D52H)	Single nucleotide variant (missense variant)	COL9A1-related disorder	GUncertain significance
Select item 284613	NM_001851.6(COL9A1):c.138G>A (p.Lys46=)	COL9A1	Single nucleotide variant (synonymous variant)	COL9A1-related disorder +2 more	GBenign/Likely benign
Select item 1411344	NM_001851.6(COL9A1):c.88A>G (p.Arg30Gly)	COL9A1 (R30G)	Single nucleotide variant (missense variant)	COL9A1-related disorder +1 more	GUncertain significance
Select item 963784	NM_001851.6(COL9A1):c.83G>A (p.Arg28His)	COL9A1 (R28H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 286545	NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)	COL9A1 (P19L)	Single nucleotide variant (missense variant)	COL9A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 682590	NM_001851.6(COL9A1):c.15-3C>T	COL9A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 38