ClinVar for MedGen (Select 332400) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931774	NM_002472.3(MYH8):c.1640C>T (p.Thr547Met)	MYH8, MYHAS (T547M)	Single nucleotide variant (missense variant)	Carney complex - trismus - pseudocamptodactyly syndrome	GUncertain significance
Select item 931773	NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala)	MYH8, MYHAS (V1575A)	Single nucleotide variant (missense variant)	Carney complex - trismus - pseudocamptodactyly syndrome	GUncertain significance
Select item 775109	NM_002472.3(MYH8):c.1632T>C (p.Pro544=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Carney complex - trismus - pseudocamptodactyly syndrome +2 more	GBenign/Likely benign
Select item 739199	NM_002472.3(MYH8):c.479T>A (p.Ile160Asn)	MYH8, MYHAS (I160N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 634583	NM_002472.3(MYH8):c.977T>C (p.Ile326Thr)	MYH8, MYHAS (I326T)	Single nucleotide variant (missense variant)	Carney complex - trismus - pseudocamptodactyly syndrome +2 more	GUncertain significance
Select item 397646	NM_002472.3(MYH8):c.3320del (p.Leu1107fs)	LOC126862494, MYH8 +1 more (L1107fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 225416	NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)	MYH8, MYHAS (R1292*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 129675	NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)	MYH8, MYHAS (M1229T)	Single nucleotide variant (missense variant)	Hecht syndrome +3 more	GBenign/Likely benign
Select item 14136	NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)	MYH8, MYHAS (R674Q)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GPathogenic