LOC114827851[gene] - ClinVar - NCBI

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	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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 14146	NC_000014.9:g.23390032_23419824dup	LOC114827851, LOC126861897 +4 more	Duplication	Myosin, cardiac, heavy chain variant	GPathogenic
Select item 583981	NC_000014.8:g.(?_23859246)_(23889463_?)dup	LOC114827851, LOC126861897 +4 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 149241	GRCh38/hg38 14q11.2(chr14:23390903-23414236)x1	LOC114827851, MYH6 +1 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 470501	NC_000014.8:g.(?_23861751)_(23889463_?)dup	LOC114827851, MIR208B +4 more	Duplication	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 153761	GRCh38/hg38 14q11.2(chr14:23395406-23414169)x3	LOC114827851, MYH6 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1631550	NM_002471.4(MYH6):c.642+17A>G	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1570629	NM_002471.4(MYH6):c.642+16C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 765105	NM_002471.4(MYH6):c.642+7T>C	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
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 915528	NM_002471.4(MYH6):c.642+3G>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1329252	NM_002471.4(MYH6):c.642+1G>C	LOC114827851, MYH6	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 965381	NM_002471.4(MYH6):c.642+1G>T	LOC114827851, MYH6	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2880050	NM_002471.4(MYH6):c.639C>T (p.Asn213=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1085119	NM_002471.4(MYH6):c.636G>T (p.Ala212=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 520323	NM_002471.4(MYH6):c.636G>A (p.Ala212=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GLikely benign
Select item 519020	NM_002471.4(MYH6):c.635C>T (p.Ala212Val)	LOC114827851, MYH6 (A212V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GConflicting classifications of pathogenicity
Select item 264090	NM_002471.4(MYH6):c.633T>A (p.Asn211Lys)	LOC114827851, MYH6 (N211K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1752826	NM_002471.4(MYH6):c.631A>T (p.Asn211Tyr)	LOC114827851, MYH6 (N211Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1160758	NM_002471.4(MYH6):c.627T>C (p.Asn209=)	MYH6, LOC114827851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 44541	NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)	LOC114827851, MYH6 (D208N)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
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 3297481	NM_002471.4(MYH6):c.613G>A (p.Gly205Ser)	LOC114827851, MYH6 (G205S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 965840	NM_002471.4(MYH6):c.611G>A (p.Arg204His)	LOC114827851, MYH6 (R204H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
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 915529	NM_002471.4(MYH6):c.601A>G (p.Ile201Val)	LOC114827851, MYH6 (I201V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2022325	NM_002471.4(MYH6):c.597A>G (p.Ala199=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely 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 44539	NM_002471.4(MYH6):c.568C>T (p.Arg190Cys)	LOC114827851, MYH6 (R190C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1540021	NM_002471.4(MYH6):c.555T>C (p.Thr185=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1961811	NM_002471.4(MYH6):c.546G>C (p.Ala182=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 470546	NM_002471.4(MYH6):c.546G>A (p.Ala182=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1747600	NM_002471.4(MYH6):c.544G>A (p.Ala182Thr)	LOC114827851, MYH6 (A182T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2913874	NM_002471.4(MYH6):c.531G>A (p.Thr177=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 696028	NM_002471.4(MYH6):c.531-6C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	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 1629896	NM_002471.4(MYH6):c.530+15T>G	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1142944	NM_002471.4(MYH6):c.530+7G>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely 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 1990519	NM_002471.4(MYH6):c.530+3G>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	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 1677502	NM_002471.4(MYH6):c.530C>T (p.Thr177Met)	LOC114827851, MYH6 (T177M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1117865	NM_002471.4(MYH6):c.503-4C>T	MYH6, LOC114827851	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2838679	NM_002471.4(MYH6):c.503-10_503-8del	LOC114827851, MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14	GBenign
Select item 626808	NM_002471.4(MYH6):c.503-8T>C	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GConflicting classifications of pathogenicity
Select item 1581895	NM_002471.4(MYH6):c.503-15T>C	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1597048	NM_002471.4(MYH6):c.503-16C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1608025	NM_002471.4(MYH6):c.502+16C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2870457	NM_002471.4(MYH6):c.502+14C>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GBenign
Select item 518586	NM_002471.4(MYH6):c.502+5G>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2587182	NM_002471.4(MYH6):c.502+3G>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2910556	NM_002471.4(MYH6):c.502+1G>C	LOC114827851, MYH6	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	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 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 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 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 2691406	NM_002471.4(MYH6):c.483C>T (p.Ala161=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely 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 1138926	NM_002471.4(MYH6):c.480C>T (p.Asn160=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2441788	NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)	LOC114827851, MYH6 (N160D)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +2 more	GUncertain significance
Select item 2636664	NM_002471.4(MYH6):c.475G>A (p.Asp159Asn)	LOC114827851, MYH6 (D159N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1578758	NM_002471.4(MYH6):c.474C>T (p.Ser158=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 519193	NM_002471.4(MYH6):c.467C>G (p.Ser156Cys)	LOC114827851, MYH6 (S156C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 704030	NM_002471.4(MYH6):c.453G>A (p.Pro151=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
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 657352	NM_002471.4(MYH6):c.451C>T (p.Pro151Ser)	LOC114827851, MYH6 (P151S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1741018	NM_002471.4(MYH6):c.449C>T (p.Ala150Val)	LOC114827851, MYH6 (A150V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1511649	NM_002471.4(MYH6):c.449C>A (p.Ala150Asp)	LOC114827851, MYH6 (A150D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 935896	NM_002471.4(MYH6):c.449C>G (p.Ala150Gly)	LOC114827851, MYH6 (A150G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2452926	NM_002471.4(MYH6):c.444T>C (p.Ser148=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2644102	NM_002471.4(MYH6):c.438G>A (p.Lys146=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 470539	NM_002471.4(MYH6):c.437A>G (p.Lys146Arg)	LOC114827851, MYH6 (K146R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 3336913	NM_002471.4(MYH6):c.431G>T (p.Gly144Val)	MYH6, LOC114827851 (G144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491582	NM_002471.4(MYH6):c.431G>A (p.Gly144Asp)	LOC114827851, MYH6 (G144D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	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 2562394	NM_002471.4(MYH6):c.427C>G (p.Arg143Gly)	LOC114827851, MYH6 (R143G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 2452914	NM_002471.4(MYH6):c.404A>G (p.Asn135Ser)	LOC114827851, MYH6 (N135S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222338	NM_002471.4(MYH6):c.400T>C (p.Tyr134His)	LOC114827851, MYH6 (Y134H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44500	NM_002471.4(MYH6):c.399G>A (p.Val133=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1538797	NM_002471.4(MYH6):c.396G>A (p.Pro132=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 859021	NM_002471.4(MYH6):c.395C>T (p.Pro132Leu)	LOC114827851, MYH6 (P132L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance

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