ClinVar for MedGen (Select 934678) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2441032	NM_178554.6(KY):c.76del (p.Ala26fs)	CEP63, KY (A26fs)	Deletion (frameshift variant)	Myofibrillar myopathy 7	GLikely pathogenic
Select item 2433274	NM_178554.6(KY):c.21C>G (p.Ile7Met)	CEP63, KY (I7M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
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 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)	not provided +1 more	GBenign
Select item 1183341	NM_178554.6(KY):c.87G>T (p.Thr29=)	KY, CEP63	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 7 +1 more	GBenign
Select item 1175657	NM_178554.6(KY):c.1251T>C (p.Phe417=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 7 +1 more	GBenign
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 1031310	NM_178554.6(KY):c.884C>G (p.Ser295Cys)	CEP63, KY (S279C +3 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	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 254182	NM_178554.6(KY):c.1071del (p.Thr358fs)	KY, CEP63 (T316fs +3 more)	Deletion (frameshift variant)	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