"GeneDx"[submitter] AND "LOC126805814"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 1263899	NM_001854.4(COL11A1):c.5274+261A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229009	NM_001854.4(COL11A1):c.5274+97C>T	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303460	NM_001854.4(COL11A1):c.5274G>A (p.Ala1758=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 284750	NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)	COL11A1, LOC126805814 (A1770V +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GUncertain significance
Select item 198360	NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	COL11A1, LOC126805814 (R1745H +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1720209	NM_001854.4(COL11A1):c.5173T>A (p.Ser1725Thr)	COL11A1, LOC126805814 (S1609T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449987	NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)	COL11A1, LOC126805814 (H1715L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 720991	NM_001854.4(COL11A1):c.5136C>T (p.Tyr1712=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1001761	NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)	COL11A1, LOC126805814 (T1595I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1702542	NM_001854.4(COL11A1):c.5120G>A (p.Arg1707Gln)	COL11A1, LOC126805814 (R1591Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1369352	NM_001854.4(COL11A1):c.5119C>T (p.Arg1707Trp)	COL11A1, LOC126805814 (R1719W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1311019	NM_001854.4(COL11A1):c.5099A>C (p.Lys1700Thr)	COL11A1, LOC126805814 (K1584T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311737	NM_001854.4(COL11A1):c.5095C>G (p.Leu1699Val)	COL11A1, LOC126805814 (L1583V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737368	NM_001854.4(COL11A1):c.5041-4C>T	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197874	NM_001854.4(COL11A1):c.5041-8A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681209	NM_001854.4(COL11A1):c.5041-272G>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign