ClinVar for MedGen (Select 78540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064986	NM_002472.3(MYH8):c.1804G>A (p.Asp602Asn)	MYH8, MYHAS (D602N)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 1806134	NM_002472.3(MYH8):c.2172-4G>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 983064	NM_002472.3(MYH8):c.797T>C (p.Ile266Thr)	MYHAS, MYH8 (I266T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 888565	NM_002472.3(MYH8):c.*19A>G	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	Hecht syndrome	GUncertain significance
Select item 888564	NM_002472.3(MYH8):c.*33G>C	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	Hecht syndrome	GUncertain significance
Select item 887683	NM_002472.3(MYH8):c.254C>T (p.Pro85Leu)	MYH8, MYHAS (P85L)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GUncertain significance
Select item 887682	NM_002472.3(MYH8):c.277A>G (p.Met93Val)	MYH8, MYHAS (M93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 887681	NM_002472.3(MYH8):c.304C>G (p.Pro102Ala)	MYH8, MYHAS (P102A)	Single nucleotide variant (missense variant)	MYH8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 887680	NM_002472.3(MYH8):c.399G>T (p.Trp133Cys)	MYHAS, MYH8 (W133C)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 887625	NM_002472.3(MYH8):c.1803G>T (p.Lys601Asn)	MYH8, MYHAS (K601N)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 887624	NM_002472.3(MYH8):c.1899T>C (p.Asp633=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 887564	NM_002472.3(MYH8):c.3918G>A (p.Arg1306=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 887563	NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val)	MYH8, MYHAS (I1383V)	Single nucleotide variant (missense variant)	MYH8-related condition +2 more	GConflicting classifications of pathogenicity
Select item 887498	NM_002472.3(MYH8):c.676G>A (p.Ala226Thr)	MYH8, MYHAS (A226T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887497	NM_002472.3(MYH8):c.851G>T (p.Arg284Ile)	MYH8, MYHAS (R284I)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 887438	NM_002472.3(MYH8):c.2317C>T (p.Leu773=)	MYH8, MYHAS	Single nucleotide variant (non-coding transcript variant +1 more)	Hecht syndrome	GUncertain significance
Select item 887437	NM_002472.3(MYH8):c.2439A>G (p.Ala813=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 887436	NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val)	LOC126862494, MYH8 +1 more (L1051V)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 887367	NM_002472.3(MYH8):c.4878T>C (p.Asn1626=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	MYH8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 886432	NM_002472.3(MYH8):c.3408G>A (p.Glu1136=)	MYHAS, LOC126862494 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 886431	NM_002472.3(MYH8):c.3423C>T (p.Asp1141=)	MYH8, MYHAS +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 886373	NM_002472.3(MYH8):c.5025A>G (p.Ala1675=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 886372	NM_002472.3(MYH8):c.5112C>A (p.Ile1704=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 886371	NM_002472.3(MYH8):c.5115C>T (p.Ala1705=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 886370	NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu)	MYH8, MYHAS (K1732E)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 885472	NM_002472.3(MYH8):c.-93T>G	MYH8, MYHAS	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885413	NM_002472.3(MYH8):c.959A>T (p.Glu320Val)	MYH8, MYHAS (E320V)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 885412	NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser)	MYH8, MYHAS (T345S)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GUncertain significance
Select item 885411	NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu)	MYH8, MYHAS (I352L)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GUncertain significance
Select item 885410	NM_002472.3(MYH8):c.1147+14C>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 884538	NM_002472.3(MYH8):c.-31+9T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 884537	NM_002472.3(MYH8):c.59G>A (p.Arg20Gln)	MYH8, MYHAS (R20Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 884536	NM_002472.3(MYH8):c.76C>A (p.Arg26=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 884535	NM_002472.3(MYH8):c.172G>C (p.Glu58Gln)	MYH8, MYHAS (E58Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 884474	NM_002472.3(MYH8):c.1150G>A (p.Ala384Thr)	MYH8, MYHAS (A384T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 884473	NM_002472.3(MYH8):c.1583A>G (p.Glu528Gly)	MYH8, MYHAS (E528G)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 884472	NM_002472.3(MYH8):c.1587+4G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 884410	NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser)	LOC126862494, MYH8 +1 more (G1157S)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 884409	NM_002472.3(MYH8):c.3643C>A (p.Arg1215=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 884408	NM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg)	MYH8, MYHAS (L1227R)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 884407	NM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg)	MYH8, MYHAS (C1252R)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 884351	NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln)	LOC126862493, MYH8 +1 more (R1848Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 790329	NM_002472.3(MYH8):c.1318C>T (p.Leu440=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 785554	NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val)	LOC126862493, MYH8 +1 more (A1820V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 783773	NM_002472.3(MYH8):c.143C>T (p.Ser48Phe)	MYH8, MYHAS (S48F)	Single nucleotide variant (missense variant)	MYH8-related condition +2 more	GConflicting classifications of pathogenicity
Select item 775109	NM_002472.3(MYH8):c.1632T>C (p.Pro544=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Carney complex - trismus - pseudocamptodactyly syndrome +3 more	GBenign/Likely benign
Select item 769429	NM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn)	MYH8, MYHAS (D1605N)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 750566	NM_002472.3(MYH8):c.1815T>A (p.Asn605Lys)	MYH8, MYHAS (N605K)	Single nucleotide variant (missense variant)	Hecht syndrome +1 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 736252	NM_002472.3(MYH8):c.954G>C (p.Gln318His)	MYH8, MYHAS (Q318H)	Single nucleotide variant (missense variant)	MYH8-related condition +2 more	GConflicting classifications of pathogenicity
Select item 720389	NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met)	MYH8, MYHAS (T1500M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 632267	NM_002472.3(MYH8):c.3735+2T>A	MYH8, MYHAS	Single nucleotide variant (splice donor variant)	Hecht syndrome	GUncertain significance
Select item 631765	NM_002472.3(MYH8):c.1432C>T (p.Gln478Ter)	MYH8, MYHAS (Q478*)	Single nucleotide variant (nonsense)	Hecht syndrome	GUncertain significance
Select item 631764	NM_002472.3(MYH8):c.1486_1487del (p.Met496fs)	MYH8, MYHAS (M496fs)	Deletion (frameshift variant)	Hecht syndrome	GUncertain significance
Select item 631763	NM_002472.3(MYH8):c.1973T>A (p.Leu658Ter)	MYH8, MYHAS (L658*)	Single nucleotide variant (nonsense)	Hecht syndrome	GUncertain significance
Select item 445512	NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)	LOC126862493, MYH8 +1 more (E1838A)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GBenign/Likely benign
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 321660	NM_002472.3(MYH8):c.-65C>T	MYH8, MYHAS	Single nucleotide variant (5 prime UTR variant)	Hecht syndrome	GUncertain significance
Select item 321659	NM_002472.3(MYH8):c.-31G>A	MYH8, MYHAS	Single nucleotide variant (5 prime UTR variant)	Hecht syndrome	GBenign
Select item 321658	NM_002472.3(MYH8):c.-7C>T	MYH8, MYHAS	Single nucleotide variant (5 prime UTR variant)	Hecht syndrome	GUncertain significance
Select item 321657	NM_002472.3(MYH8):c.203G>T (p.Gly68Val)	MYH8, MYHAS (G68V)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321656	NM_002472.3(MYH8):c.501C>T (p.Phe167=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321655	NM_002472.3(MYH8):c.578G>A (p.Arg193His)	MYH8, MYHAS (R193H)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321654	NM_002472.3(MYH8):c.605C>T (p.Ala202Val)	MYHAS, MYH8 (A202V)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321653	NM_002472.3(MYH8):c.675C>T (p.Ser225=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 321652	NM_002472.3(MYH8):c.840A>G (p.Leu280=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321651	NM_002472.3(MYH8):c.846G>A (p.Ala282=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321650	NM_002472.3(MYH8):c.1009-4G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 321649	NM_002472.3(MYH8):c.1067C>T (p.Thr356Ile)	MYH8, MYHAS (T356I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 321648	NM_002472.3(MYH8):c.1268T>G (p.Val423Gly)	MYH8, MYHAS (V423G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321647	NM_002472.3(MYH8):c.1416+11T>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 321646	NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp)	MYH8, MYHAS (E577D)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GBenign/Likely benign
Select item 321645	NM_002472.3(MYH8):c.1833G>A (p.Leu611=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321644	NM_002472.3(MYH8):c.1989G>A (p.Thr663=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321643	NM_002472.3(MYH8):c.2117G>A (p.Arg706His)	MYH8, MYHAS (R706H)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GBenign/Likely benign
Select item 321642	NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys)	LOC126862494, MYH8 +1 more (E931K)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GUncertain significance
Select item 321641	NM_002472.3(MYH8):c.2987C>G (p.Ser996Cys)	LOC126862494, MYH8 +1 more (S996C)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321640	NM_002472.3(MYH8):c.3254+8C>A	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 321639	NM_002472.3(MYH8):c.3255-8G>A	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 321638	NM_002472.3(MYH8):c.3340T>C (p.Leu1114=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321637	NM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln)	LOC126862494, MYHAS +1 more (E1126Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321636	NM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser)	LOC126862494, MYHAS +1 more (A1130S)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321635	NM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr)	LOC126862494, MYH8 +1 more (A1184T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321634	NM_002472.3(MYH8):c.3703A>G (p.Ser1235Gly)	MYH8, MYHAS (S1235G)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321633	NM_002472.3(MYH8):c.4003G>A (p.Ala1335Thr)	MYH8, MYHAS (A1335T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321632	NM_002472.3(MYH8):c.4249C>G (p.Leu1417Val)	MYH8, MYHAS (L1417V)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321631	NM_002472.3(MYH8):c.4433G>A (p.Arg1478His)	MYHAS, MYH8 (R1478H)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321630	NM_002472.3(MYH8):c.4688G>A (p.Arg1563His)	MYH8, MYHAS (R1563H)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321629	NM_002472.3(MYH8):c.4692C>A (p.Ile1564=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321628	NM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr)	MYH8, MYHAS (A1580T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321627	NM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys)	MYH8, MYHAS (R1595K)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321626	NM_002472.3(MYH8):c.4910G>A (p.Arg1637His)	MYH8, MYHAS (R1637H)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321625	NM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln)	MYH8, MYHAS (R1665Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321624	NM_002472.3(MYH8):c.5166+14A>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 321623	NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg)	MYH8, MYHAS +1 more (K1812R)	Single nucleotide variant (missense variant)	Hecht syndrome	GLikely benign
Select item 321622	NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys)	LOC126862493, MYH8 +1 more (E1847K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321621	NM_002472.3(MYH8):c.5736G>C (p.Arg1912=)	MYHAS, MYH8	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321620	NM_002472.3(MYH8):c.*72T>C	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 321619	NM_002472.3(MYH8):c.*76G>C	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign

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