"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC114827851"[gen - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 662880	NM_002471.4(MYH6):c.642+4C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1447754	NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del)	LOC114827851, MYH6 (K207del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 14 +5 more	GConflicting classifications of pathogenicity
Select item 574612	NM_002471.4(MYH6):c.610C>T (p.Arg204Cys)	MYH6, LOC114827851 (R204C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +4 more	GUncertain significance
Select item 942862	NM_002471.4(MYH6):c.569G>A (p.Arg190His)	LOC114827851, MYH6 (R190H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 537958	NM_002471.4(MYH6):c.530+6C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1032062	NM_002471.4(MYH6):c.493A>T (p.Met165Leu)	LOC114827851, MYH6 (M165L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 44523	NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys)	LOC114827851, MYH6 (Y162C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 423749	NM_002471.4(MYH6):c.481G>A (p.Ala161Thr)	LOC114827851, MYH6 (A161T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 959679	NM_002471.4(MYH6):c.427C>T (p.Arg143Trp)	LOC114827851, MYH6 (R143W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 239174	NM_002471.4(MYH6):c.420C>T (p.Ala140=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +8 more	GBenign/Likely benign
Select item 1432256	NM_002471.4(MYH6):c.409G>A (p.Glu137Lys)	LOC114827851, MYH6 (E137K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1677485	NM_002471.4(MYH6):c.325T>C (p.Tyr109His)	LOC114827851, MYH6 (Y109H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 44474	NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)	LOC114827851, MYH6 (E98K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GConflicting classifications of pathogenicity
Select item 1023317	NM_002471.4(MYH6):c.268A>G (p.Met90Val)	LOC114827851, MYH6 (M90V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1371522	NM_002471.4(MYH6):c.244C>T (p.Pro82Ser)	LOC114827851, MYH6 (P82S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 505879	NM_002471.4(MYH6):c.233A>G (p.Gln78Arg)	LOC114827851, MYH6 (Q78R)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 537953	NM_002471.4(MYH6):c.226G>A (p.Val76Met)	LOC114827851, MYH6 (V76M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 312883	NM_002471.4(MYH6):c.212T>C (p.Val71Ala)	LOC114827851, MYH6 (V71A)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +8 more	GUncertain significance
Select item 859305	NM_002471.4(MYH6):c.203C>T (p.Thr68Met)	LOC114827851, MYH6 (T68M)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +6 more	GUncertain significance
Select item 1384882	NM_002471.4(MYH6):c.201G>C (p.Lys67Asn)	LOC114827851, MYH6 (K67N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 933695	NM_002471.4(MYH6):c.190G>A (p.Glu64Lys)	LOC114827851, MYH6 (E64K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 180421	NM_002471.4(MYH6):c.182C>T (p.Ala61Val)	LOC114827851, MYH6 (A61V)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +5 more	GUncertain significance
Select item 164257	NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)	LOC114827851, MYH6 (R54Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +8 more	GUncertain significance
Select item 1435983	NM_002471.4(MYH6):c.160C>T (p.Arg54Trp)	LOC114827851, MYH6 (R54W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 191724	NM_002471.4(MYH6):c.115G>A (p.Val39Met)	LOC114827851, MYH6 (V39M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GConflicting classifications of pathogenicity
Select item 917551	NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)	LOC114827851, MYH6 (L24P)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 537970	NM_002471.4(MYH6):c.68G>A (p.Arg23His)	LOC114827851, MYH6 (R23H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 164259	NM_002471.4(MYH6):c.36G>A (p.Ala12=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Atrial septal defect 3 +8 more	GBenign/Likely benign
Select item 520321	NM_002471.4(MYH6):c.7G>A (p.Asp3Asn)	LOC114827851, MYH6 (D3N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance

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Items: 29