KY[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 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 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 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 1032559	NM_178554.6(KY):c.1901G>T (p.Cys634Phe)	CEP63, KY (C634F +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
Select item 2689338	NM_178554.6(KY):c.1895C>G (p.Ala632Gly)	CEP63, KY (A611G +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
Select item 1244064	NM_178554.6(KY):c.1893A>G (p.Thr631=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1037666	NM_178554.6(KY):c.1889G>A (p.Ser630Asn)	CEP63, KY (S609N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374085	NM_178554.6(KY):c.1778G>A (p.Arg593Gln)	CEP63, KY (R593Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732035	NM_178554.6(KY):c.1777C>T (p.Arg593Trp)	CEP63, KY (R572W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3044565	NM_178554.6(KY):c.1773C>T (p.Ala591=)	CEP63, KY	Single nucleotide variant (synonymous variant)	KY-related disorder	GLikely benign
Select item 2560034	NM_178554.6(KY):c.1734C>A (p.Asp578Glu)	CEP63, KY (D578E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358438	NM_178554.6(KY):c.1726G>A (p.Gly576Arg)	CEP63, KY (G576R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341699	NM_178554.6(KY):c.1718G>T (p.Gly573Val)	CEP63, KY (G552V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2251885	NM_178554.6(KY):c.1652T>C (p.Val551Ala)	CEP63, KY (V530A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234468	NM_178554.6(KY):c.1615G>A (p.Val539Ile)	CEP63, KY (V518I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739169	NM_178554.6(KY):c.1596G>A (p.Lys532=)	KY, CEP63	Single nucleotide variant (synonymous variant)	not provided	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 756244	NM_178554.6(KY):c.1564G>A (p.Glu522Lys)	CEP63, KY (E501K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3289791	NM_178554.6(KY):c.1550G>A (p.Arg517Gln)	CEP63, KY (R496Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1001027	NM_178554.6(KY):c.1529G>A (p.Arg510His)	CEP63, KY (R489H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 731346	NM_178554.6(KY):c.1491C>T (p.His497=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3117200	NM_178554.6(KY):c.1456G>C (p.Val486Leu)	CEP63, KY +1 more (V465L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461710	NM_178554.6(KY):c.1456G>A (p.Val486Met)	CEP63, KY +1 more (V465M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654165	NM_178554.6(KY):c.1438T>C (p.Cys480Arg)	CEP63, KY +1 more (C459R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289790	NM_178554.6(KY):c.1435C>G (p.Arg479Gly)	CEP63, KY +1 more (R479G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709140	NM_178554.6(KY):c.1395G>A (p.Lys465=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026338	NM_178554.6(KY):c.1374G>A (p.Ser458=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317052	NM_178554.6(KY):c.1355T>C (p.Val452Ala)	CEP63, KY +1 more (V452A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1339572	NM_178554.6(KY):c.1247T>A (p.Ile416Asn)	CEP63, KY +1 more (I395N +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GLikely pathogenic
Select item 3289793	NM_178554.6(KY):c.1217C>T (p.Pro406Leu)	CEP63, KY +1 more (P385L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117199	NM_178554.6(KY):c.1133C>A (p.Thr378Lys)	CEP63, KY (T357K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737895	NM_178554.6(KY):c.1131G>A (p.Pro377=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1178128	NM_178554.6(KY):c.1091-206C>T	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3050371	NM_178554.6(KY):c.1090+188G>A	CEP63, KY	Single nucleotide variant (synonymous variant +1 more)	KY-related disorder	GLikely benign
Select item 3039560	NM_178554.6(KY):c.1090+107C>T	CEP63, KY	Single nucleotide variant (synonymous variant +1 more)	KY-related disorder	GLikely benign
Select item 711861	NM_178554.6(KY):c.1090+9G>A	CEP63, KY (G325R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 254182	NM_178554.6(KY):c.1071del (p.Thr358fs)	KY, CEP63 (T316fs +3 more)	Deletion (frameshift variant)	Myofibrillar myopathy 7	GPathogenic
Select item 2490574	NM_178554.6(KY):c.1024C>T (p.His342Tyr)	CEP63, KY (H300Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323823	NM_178554.6(KY):c.1020G>C (p.Met340Ile)	CEP63, KY (M298I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 738716	NM_178554.6(KY):c.969C>T (p.Asn323=)	KY, CEP63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1031310	NM_178554.6(KY):c.884C>G (p.Ser295Cys)	CEP63, KY (S279C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3117204	NM_178554.6(KY):c.862G>A (p.Gly288Ser)	CEP63, KY (G272S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736271	NM_178554.6(KY):c.861C>T (p.Ser287=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463356	NM_178554.6(KY):c.785C>T (p.Ser262Leu)	CEP63, KY (S262L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377808	NM_178554.6(KY):c.715G>A (p.Ala239Thr)	CEP63, KY (A218T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750080	NM_178554.6(KY):c.711-4C>G	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 3049936	NM_178554.6(KY):c.710+4C>T	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	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 3117203	NM_178554.6(KY):c.632C>G (p.Ala211Gly)	CEP63, KY (A190G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365840	NM_178554.6(KY):c.602T>C (p.Ile201Thr)	CEP63, KY (I180T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260437	NM_178554.6(KY):c.593-59G>A	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3117202	NM_178554.6(KY):c.562G>A (p.Ala188Thr)	CEP63, KY (A172T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735946	NM_178554.6(KY):c.561C>T (p.Arg187=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1013229	NM_178554.6(KY):c.557T>C (p.Val186Ala)	CEP63, KY (V144A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 74875	NM_178554.6(KY):c.508G>A (p.Glu170Lys)	KY, CEP63 (E170K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2321532	NM_178554.6(KY):c.505G>C (p.Asp169His)	CEP63, KY (D153H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 740724	NM_178554.6(KY):c.483+8A>G	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581449	NM_178554.6(KY):c.481C>T (p.Gln161Ter)	KY, CEP63 (Q119* +3 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 7	GPathogenic
Select item 2489533	NM_178554.6(KY):c.422G>A (p.Ser141Asn)	CEP63, KY (S141N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997854	NM_178554.6(KY):c.415C>T (p.Arg139Ter)	CEP63, KY (R139* +3 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 7	GPathogenic
Select item 254181	NM_178554.6(KY):c.405C>A (p.Tyr135Ter)	CEP63, KY (Y135* +3 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 7	GPathogenic
Select item 1241109	NM_178554.6(KY):c.401-205G>A	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040714	NM_178554.6(KY):c.400+10A>C	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3379497	NM_178554.6(KY):c.399T>A (p.His133Gln)	CEP63, KY (H112Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610005	NM_178554.6(KY):c.374G>A (p.Arg125Gln)	CEP63, KY (R83Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2303980	NM_178554.6(KY):c.355A>T (p.Asn119Tyr)	CEP63, KY (N119Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535692	NM_178554.6(KY):c.347G>A (p.Gly116Asp)	CEP63, KY (G100D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041948	NM_178554.6(KY):c.337+22A>G	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3064685	NM_178554.6(KY):c.337+5G>T	CEP63, KY (M93I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 7	GUncertain significance
Select item 2219004	NM_178554.6(KY):c.293G>A (p.Arg98Gln)	CEP63, KY (R77Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2