"PreventionGenetics, part of Exact Sciences"[submitter] AND "COLEC11"[ - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053588	NM_024027.5(COLEC11):c.-26-679G>A	COLEC11	Single nucleotide variant (5 prime UTR variant +1 more)	COLEC11-related condition	GLikely benign
Select item 3043473	NM_024027.5(COLEC11):c.-26-670G>A	COLEC11	Single nucleotide variant (5 prime UTR variant +1 more)	COLEC11-related condition	GLikely benign
Select item 3057546	NM_024027.5(COLEC11):c.-26-646C>T	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related condition	GLikely benign
Select item 3054516	NM_024027.5(COLEC11):c.-26-645G>A	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related condition	GLikely benign
Select item 3054253	NM_024027.5(COLEC11):c.-26-5T>C	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related condition	GLikely benign
Select item 3052218	NM_024027.5(COLEC11):c.114C>T (p.Leu38=)	COLEC11 (S9L)	Single nucleotide variant (synonymous variant +2 more)	COLEC11-related condition	GUncertain significance
Select item 3051137	NM_024027.5(COLEC11):c.130+6C>T	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related condition	GLikely benign
Select item 3030350	NM_024027.5(COLEC11):c.130+1716T>C	COLEC11	Single nucleotide variant (5 prime UTR variant +1 more)	COLEC11-related condition	GLikely benign
Select item 3031611	NM_024027.5(COLEC11):c.130+1740A>T	COLEC11 (S7C)	Single nucleotide variant (missense variant +1 more)	COLEC11-related condition	GUncertain significance
Select item 732765	NM_024027.5(COLEC11):c.169C>T (p.Arg57Trp)	COLEC11 (R57W +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely benign
Select item 730885	NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)	COLEC11 (T38M +3 more)	Single nucleotide variant (missense variant +2 more)	COLEC11-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3053967	NM_024027.5(COLEC11):c.203-11487C>T	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related condition	GLikely benign
Select item 2054245	NM_024027.5(COLEC11):c.242G>A (p.Arg81His)	COLEC11 (R55H +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 711324	NM_024027.5(COLEC11):c.329-6_329-5dup	COLEC11	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 3048079	NM_024027.5(COLEC11):c.329-6C>T	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related condition	GLikely benign
Select item 3055756	NM_024027.5(COLEC11):c.528G>A (p.Thr176=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related condition	GLikely benign
Select item 3035817	NM_024027.5(COLEC11):c.576C>T (p.Tyr192=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related condition	GLikely benign
Select item 2185870	NM_024027.5(COLEC11):c.636C>T (p.Gly212=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related condition +1 more	GLikely benign
Select item 3040813	NM_024027.5(COLEC11):c.642C>T (p.Phe214=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related condition	GLikely benign
Select item 3035577	NM_024027.5(COLEC11):c.690C>T (p.Ser230=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related condition	GLikely benign
Select item 3043782	NM_024027.5(COLEC11):c.726C>T (p.Cys242=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related condition	GLikely benign

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Items: 21