"GeneDx"[submitter] AND "LOC114827851"[gene] - ClinVar

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

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
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 44541	NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)	LOC114827851, MYH6 (D208N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 1331302	NM_002471.4(MYH6):c.595G>A (p.Ala199Thr)	LOC114827851, MYH6 (A199T)	Single nucleotide variant (missense variant)	not provided	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 391456	NM_002471.4(MYH6):c.540C>T (p.Ser180=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 513224	NM_002471.4(MYH6):c.531-19T>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 3363650	NM_002471.4(MYH6):c.530C>G (p.Thr177Arg)	LOC114827851, MYH6 (T177R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706991	NM_002471.4(MYH6):c.502G>C (p.Asp168His)	LOC114827851, MYH6 (D168H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 519090	NM_002471.4(MYH6):c.492C>T (p.Tyr164=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 430224	NM_002471.4(MYH6):c.452C>T (p.Pro151Leu)	LOC114827851, MYH6 (P151L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1924244	NM_002471.4(MYH6):c.440G>A (p.Arg147Lys)	LOC114827851, MYH6 (R147K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1706149	NM_002471.4(MYH6):c.428G>C (p.Arg143Pro)	LOC114827851, MYH6 (R143P)	Single nucleotide variant (missense variant)	not provided	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 44507	NM_002471.4(MYH6):c.427C>A (p.Arg143=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 191722	NM_002471.4(MYH6):c.421G>A (p.Ala141Thr)	LOC114827851, MYH6 (A141T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 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 1738416	NM_002471.4(MYH6):c.416T>C (p.Val139Ala)	LOC114827851, MYH6 (V139A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44504	NM_002471.4(MYH6):c.411G>A (p.Glu137=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 239173	NM_002471.4(MYH6):c.408C>T (p.Ala136=)	MYH6, LOC114827851	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 44500	NM_002471.4(MYH6):c.399G>A (p.Val133=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 44495	NM_002471.4(MYH6):c.393G>A (p.Leu131=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GBenign
Select item 1052381	NM_002471.4(MYH6):c.353C>T (p.Ser118Leu)	LOC114827851, MYH6 (S118L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 164255	NM_002471.4(MYH6):c.346-2A>G	LOC114827851, MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 681442	NM_002471.4(MYH6):c.345+18A>G	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 44481	NM_002471.4(MYH6):c.330G>A (p.Ala110=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 844900	NM_002471.4(MYH6):c.329C>T (p.Ala110Val)	LOC114827851, MYH6 (A110V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 44478	NM_002471.4(MYH6):c.328G>A (p.Ala110Thr)	LOC114827851, MYH6 (A110T)	Single nucleotide variant (missense variant)	not specified +2 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 1182733	NM_002471.4(MYH6):c.291C>T (p.His97=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 470517	NM_002471.4(MYH6):c.269T>C (p.Met90Thr)	LOC114827851, MYH6 (M90T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 936555	NM_002471.4(MYH6):c.259A>T (p.Ile87Phe)	LOC114827851, MYH6 (I87F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 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 3371968	NM_002471.4(MYH6):c.231G>A (p.Leu77=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not provided	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 414320	NM_002471.4(MYH6):c.210T>C (p.Thr70=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 509038	NM_002471.4(MYH6):c.202-11G>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 179864	NM_002471.4(MYH6):c.202-12C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GLikely benign
Select item 258708	NM_002471.4(MYH6):c.201+16C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 1420949	NM_002471.4(MYH6):c.175G>C (p.Val59Leu)	LOC114827851, MYH6 (V59L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44455	NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)	LOC114827851, MYH6 (G56R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
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 191723	NM_002471.4(MYH6):c.121G>A (p.Asp41Asn)	LOC114827851, MYH6 (D41N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 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 656847	NM_002471.4(MYH6):c.100C>T (p.Arg34Cys)	LOC114827851, MYH6 (R34C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 164258	NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)	LOC114827851, MYH6 (R29Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1179957	NM_002471.4(MYH6):c.85C>T (p.Arg29Trp)	LOC114827851, MYH6 (R29W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 164260	NM_002471.4(MYH6):c.70C>A (p.Leu24Ile)	LOC114827851, MYH6 (L24I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GBenign/Likely benign
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 155809	NM_002471.4(MYH6):c.67C>T (p.Arg23Cys)	LOC114827851, MYH6 (R23C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1331230	NM_002471.4(MYH6):c.64G>A (p.Glu22Lys)	LOC114827851, MYH6 (E22K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1055507	NM_002471.4(MYH6):c.50G>T (p.Arg17Leu)	LOC114827851, MYH6 (R17L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 429310	NM_002471.4(MYH6):c.49C>T (p.Arg17Cys)	LOC114827851, MYH6 (R17C)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +4 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
Select item 164261	NM_002471.4(MYH6):c.-5C>A	MYH6, LOC114827851	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 312884	NM_002471.4(MYH6):c.-8G>A	LOC114827851, MYH6	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 509100	NM_002471.4(MYH6):c.-14+10G>C	LOC114827851, MYH6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2499436	NM_002471.4(MYH6):c.-14+1G>C	LOC114827851, MYH6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 510604	NM_002471.4(MYH6):c.-30C>T	LOC114827851, MYH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514516	NM_002471.4(MYH6):c.-46-8C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 515379	NM_002471.4(MYH6):c.-54C>A	LOC114827851, MYH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514522	NM_002471.4(MYH6):c.-54C>T	MYH6, LOC114827851	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 312886	NM_002471.4(MYH6):c.-64G>C	LOC114827851, MYH6 +1 more	Single nucleotide variant (5 prime UTR variant)	Atrial septal defect +8 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69