C0240912[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332477	NM_002148.4(HOXD10):c.-10C>A	HOXD10	Single nucleotide variant (5 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 893879	NM_002148.4(HOXD10):c.-6C>G	HOXD10	Single nucleotide variant (5 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 893880	NM_002148.4(HOXD10):c.87C>T (p.Ser29=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus	GUncertain significance
Select item 332478	NM_002148.4(HOXD10):c.116C>T (p.Pro39Leu)	HOXD10 (P39L)	Single nucleotide variant (missense variant)	Congenital vertical talus	GUncertain significance
Select item 332479	NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln)	HOXD10 (R89Q)	Single nucleotide variant (missense variant)	Congenital vertical talus +1 more	GConflicting classifications of pathogenicity
Select item 332480	NM_002148.4(HOXD10):c.372T>G (p.Ile124Met)	HOXD10 (I124M)	Single nucleotide variant (missense variant)	Congenital vertical talus +2 more	GConflicting classifications of pathogenicity
Select item 332481	NM_002148.4(HOXD10):c.420C>G (p.Pro140=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus	GUncertain significance
Select item 332482	NM_002148.4(HOXD10):c.465T>C (p.Ser155=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus +1 more	GBenign/Likely benign
Select item 332483	NM_002148.4(HOXD10):c.543C>A (p.Asn181Lys)	HOXD10 (N181K)	Single nucleotide variant (missense variant)	Congenital vertical talus	GUncertain significance
Select item 332484	NM_002148.4(HOXD10):c.561G>A (p.Lys187=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus +1 more	GConflicting classifications of pathogenicity
Select item 332485	NM_002148.4(HOXD10):c.581A>G (p.Gln194Arg)	HOXD10 (Q194R)	Single nucleotide variant (missense variant)	Congenital vertical talus	GLikely benign
Select item 332486	NM_002148.4(HOXD10):c.623A>G (p.Gln208Arg)	HOXD10 (Q208R)	Single nucleotide variant (missense variant)	Congenital vertical talus	GLikely benign
Select item 332487	NM_002148.4(HOXD10):c.786T>A (p.Thr262=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus	GUncertain significance
Select item 332488	NM_002148.4(HOXD10):c.987G>C (p.Arg329=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus +1 more	GBenign
Select item 332489	NM_002148.4(HOXD10):c.998T>C (p.Leu333Pro)	HOXD10 (L333P)	Single nucleotide variant (missense variant)	Congenital vertical talus	GBenign
Select item 332490	NM_002148.4(HOXD10):c.*2T>C	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus +1 more	GBenign
Select item 332491	NM_002148.4(HOXD10):c.*21C>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 894788	NM_002148.4(HOXD10):c.*34G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332492	NM_002148.4(HOXD10):c.*47G>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign
Select item 332493	NM_002148.4(HOXD10):c.*55G>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign
Select item 892817	NM_002148.4(HOXD10):c.*76G>C	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 892818	NM_002148.4(HOXD10):c.*83G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332499	NM_002148.4(HOXD10):c.*205TA[18]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332496	NM_002148.4(HOXD10):c.*205TA[23]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332495	NM_002148.4(HOXD10):c.*205TA[21]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332494	NM_002148.4(HOXD10):c.*205TA[17]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332498	NM_002148.4(HOXD10):c.*205TA[13]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332497	NM_002148.4(HOXD10):c.*205TA[14]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 892819	NM_002148.4(HOXD10):c.*208A>G	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332500	NM_002148.4(HOXD10):c.*233T>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 892820	NM_002148.4(HOXD10):c.*235A>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332502	NM_002148.4(HOXD10):c.*235delinsTATATATATATATATAT	HOXD10	Indel (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332501	NM_002148.4(HOXD10):c.*235delinsTATATATATAT	HOXD10	Indel (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332503	NM_002148.4(HOXD10):c.*270G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 893622	NM_002148.4(HOXD10):c.*278G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332504	NM_002148.4(HOXD10):c.*279G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign
Select item 332505	NM_002148.4(HOXD10):c.*468A>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332506	NM_002148.4(HOXD10):c.*495A>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign
Select item 332507	NM_002148.4(HOXD10):c.*585C>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign
Select item 893623	NM_002148.4(HOXD10):c.*643C>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign

ClinVar

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Items: 40