"GeneDx"[submitter] AND "KY"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 1267144	NM_178554.6(KY):c.*308C>T	KY, CEP63	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287230	NM_178554.6(KY):c.*258G>T	CEP63, KY	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1683805	NM_178554.6(KY):c.*204G>C	CEP63, KY	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1244064	NM_178554.6(KY):c.1893A>G (p.Thr631=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1289017	NM_178554.6(KY):c.1665T>C (p.Leu555=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1251525	NM_178554.6(KY):c.1593C>G (p.Gly531=)	CEP63, KY	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 7 +1 more	GBenign
Select item 782433	NM_178554.6(KY):c.1563C>T (p.Thr521=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1300557	NM_178554.6(KY):c.1530C>T (p.Arg510=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1326053	NM_178554.6(KY):c.1526G>A (p.Arg509Gln)	CEP63, KY (R488Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723822	NM_178554.6(KY):c.1525C>T (p.Arg509Trp)	CEP63, KY (R488W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175657	NM_178554.6(KY):c.1251T>C (p.Phe417=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1178128	NM_178554.6(KY):c.1091-206C>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723013	NM_178554.6(KY):c.1082T>C (p.Ile361Thr)	KY, CEP63 (I319T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789938	NM_178554.6(KY):c.1078A>T (p.Met360Leu)	KY, CEP63 (M318L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731323	NM_178554.6(KY):c.988C>T (p.Pro330Ser)	CEP63, KY (P330S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1255126	NM_178554.6(KY):c.899+297T>C	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279341	NM_178554.6(KY):c.899+173G>A	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300765	NM_178554.6(KY):c.899+66T>C	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302289	NM_178554.6(KY):c.710+194G>A	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321579	NM_178554.6(KY):c.710+125C>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723663	NM_178554.6(KY):c.656G>A (p.Arg219Gln)	CEP63, KY (R177Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1260437	NM_178554.6(KY):c.593-59G>A	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2574870	NM_178554.6(KY):c.560G>A (p.Arg187His)	CEP63, KY (R145H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302147	NM_178554.6(KY):c.484-39C>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300772	NM_178554.6(KY):c.484-180G>A	KY, CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300760	NM_178554.6(KY):c.484-268T>G	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232710	NM_178554.6(KY):c.483+207G>C	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241109	NM_178554.6(KY):c.401-205G>A	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698336	NM_178554.6(KY):c.373C>T (p.Arg125Trp)	CEP63, KY (R104W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326527	NM_178554.6(KY):c.263-93_263-86dup	CEP63, KY	Duplication (intron variant)	not provided	GLikely benign
Select item 1247880	NM_178554.6(KY):c.263-101G>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326778	NM_178554.6(KY):c.263-200C>A	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220576	NM_178554.6(KY):c.263-259C>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254744	NM_178554.6(KY):c.199+162T>G	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723085	NM_178554.6(KY):c.163C>T (p.Arg55Ter)	CEP63, KY (R55*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2572780	NM_178554.6(KY):c.137-2A>G	CEP63, KY	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1247833	NM_178554.6(KY):c.137-81C>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328813	NM_178554.6(KY):c.137-89T>C	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270053	NM_178554.6(KY):c.137-116_137-115del	CEP63, KY	Deletion (intron variant)	not provided	GBenign
Select item 1247162	NM_178554.6(KY):c.136+247C>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183341	NM_178554.6(KY):c.87G>T (p.Thr29=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1239479	NC_000003.12:g.134651299T>C	CEP63, KY	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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Items: 44