MYLK2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 663

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 1191659	NC_000020.11:g.31819321del	MYLK2	Deletion	not provided	GLikely benign
Select item 138405	NM_033118.4(MYLK2):c.-67T>C	MYLK2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 514150	NM_033118.4(MYLK2):c.-62C>T	MYLK2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 46514	NM_033118.4(MYLK2):c.-13G>A	MYLK2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 915702	NM_033118.4(MYLK2):c.-3C>T	MYLK2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 46526	NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)	MYLK2 (A2T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 1515303	NM_033118.4(MYLK2):c.5C>T (p.Ala2Val)	MYLK2 (A2V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 540259	NM_033118.4(MYLK2):c.6G>A (p.Ala2=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +2 more	GBenign/Likely benign
Select item 3228203	NM_033118.4(MYLK2):c.8C>T (p.Thr3Ile)	MYLK2 (T3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1371508	NM_033118.4(MYLK2):c.14dup (p.Asn5fs)	MYLK2 (N5fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 3228197	NM_033118.4(MYLK2):c.15T>G (p.Asn5Lys)	MYLK2 (N5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164492	NM_033118.4(MYLK2):c.16G>A (p.Gly6Arg)	MYLK2 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 952897	NM_033118.4(MYLK2):c.17G>A (p.Gly6Glu)	MYLK2 (G6E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 227627	NM_033118.4(MYLK2):c.21A>G (p.Ala7=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +1 more	GLikely benign
Select item 641363	NM_033118.4(MYLK2):c.32G>A (p.Gly11Glu)	MYLK2 (G11E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1062134	NM_033118.4(MYLK2):c.50C>T (p.Thr17Ile)	MYLK2 (T17I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 338040	NM_033118.4(MYLK2):c.50C>A (p.Thr17Lys)	MYLK2 (T17K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2758406	NM_033118.4(MYLK2):c.52+8G>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 1539786	NM_033118.4(MYLK2):c.52+9C>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 1635290	NM_033118.4(MYLK2):c.52+11G>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2200184	NM_033118.4(MYLK2):c.52+13G>C	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2178996	NM_033118.4(MYLK2):c.52+14G>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 3013399	NM_033118.4(MYLK2):c.52+19A>G	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2914425	NM_033118.4(MYLK2):c.52+19A>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 678612	NM_033118.4(MYLK2):c.53-230G>A	MYLK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208475	NM_033118.4(MYLK2):c.53-45A>G	MYLK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052656	NM_033118.4(MYLK2):c.53-20G>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 1985129	NM_033118.4(MYLK2):c.53-20G>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 406156	NM_033118.4(MYLK2):c.56A>G (p.Lys19Arg)	MYLK2 (K19R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 432526	NM_033118.4(MYLK2):c.62C>T (p.Pro21Leu)	MYLK2 (P21L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 540257	NM_033118.4(MYLK2):c.68G>A (p.Gly23Asp)	MYLK2 (G23D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2565434	NM_033118.4(MYLK2):c.71C>A (p.Pro24His)	MYLK2 (P24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228201	NM_033118.4(MYLK2):c.73A>T (p.Thr25Ser)	MYLK2 (T25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 651125	NM_033118.4(MYLK2):c.74C>T (p.Thr25Ile)	MYLK2 (T25I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2198459	NM_033118.4(MYLK2):c.75A>G (p.Thr25=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 796199	NM_033118.4(MYLK2):c.78T>A (p.Gly26=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1763620	NM_033118.4(MYLK2):c.84A>G (p.Arg28=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2198335	NM_033118.4(MYLK2):c.85C>A (p.Pro29Thr)	MYLK2 (P29T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2903748	NM_033118.4(MYLK2):c.94G>T (p.Ala32Ser)	MYLK2 (A32S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2819341	NM_033118.4(MYLK2):c.95C>T (p.Ala32Val)	MYLK2 (A32V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1767862	NM_033118.4(MYLK2):c.96A>C (p.Ala32=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 567184	NM_033118.4(MYLK2):c.96_97delinsCC (p.Gly33Arg)	MYLK2 (G33R)	Indel (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1917803	NM_033118.4(MYLK2):c.97G>T (p.Gly33Trp)	MYLK2 (G33W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2155933	NM_033118.4(MYLK2):c.99G>T (p.Gly33=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 46516	NM_033118.4(MYLK2):c.102A>G (p.Lys34=)	MYLK2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 857454	NM_033118.4(MYLK2):c.105C>A (p.Asp35Glu)	MYLK2 (D35E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 164493	NM_033118.4(MYLK2):c.105C>T (p.Asp35=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +1 more	GLikely benign
Select item 2750570	NM_033118.4(MYLK2):c.110G>A (p.Gly37Asp)	MYLK2 (G37D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1159449	NM_033118.4(MYLK2):c.111C>A (p.Gly37=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2805640	NM_033118.4(MYLK2):c.113C>A (p.Pro38His)	MYLK2 (P38H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 191734	NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu)	MYLK2 (P39L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 1429893	NM_033118.4(MYLK2):c.118G>C (p.Asp40His)	MYLK2 (D40H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1518083	NM_033118.4(MYLK2):c.125A>G (p.Lys42Arg)	MYLK2 (K42R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1133090	NM_033118.4(MYLK2):c.126G>A (p.Lys42=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 191735	NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu)	MYLK2 (P45L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GUncertain significance
Select item 2052324	NM_033118.4(MYLK2):c.135G>A (p.Pro45=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +1 more	GLikely benign
Select item 2738852	NM_033118.4(MYLK2):c.143C>T (p.Pro48Leu)	MYLK2 (P48L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2995275	NM_033118.4(MYLK2):c.145A>C (p.Thr49Pro)	MYLK2 (T49P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1773331	NM_033118.4(MYLK2):c.146C>T (p.Thr49Ile)	MYLK2 (T49I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3228193	NM_033118.4(MYLK2):c.149T>G (p.Leu50Arg)	MYLK2 (L50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1572673	NM_033118.4(MYLK2):c.156A>G (p.Lys52=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 473043	NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)	MYLK2 (D53N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 3345882	NM_033118.4(MYLK2):c.160G>A (p.Ala54Thr)	MYLK2 (A54T)	Single nucleotide variant (missense variant)	MYLK2-related disorder	GUncertain significance
Select item 1776568	NM_033118.4(MYLK2):c.161C>A (p.Ala54Asp)	MYLK2 (A54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1717856	NM_033118.4(MYLK2):c.161C>T (p.Ala54Val)	MYLK2 (A54V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2760981	NM_033118.4(MYLK2):c.162_163insT (p.Lys55Ter)	MYLK2 (K55*)	Insertion (nonsense)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2450796	NM_033118.4(MYLK2):c.162C>T (p.Ala54=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2574527	NM_033118.4(MYLK2):c.166del (p.Ala56fs)	MYLK2 (A56fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 626560	NM_033118.4(MYLK2):c.167C>T (p.Ala56Val)	MYLK2 (A56V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2462221	NM_033118.4(MYLK2):c.168C>A (p.Ala56=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1516109	NM_033118.4(MYLK2):c.172G>A (p.Ala58Thr)	MYLK2 (A58T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 46522	NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)	MYLK2 (A58D)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 1007335	NM_033118.4(MYLK2):c.184G>A (p.Gly62Arg)	MYLK2 (G62R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1057640	NM_033118.4(MYLK2):c.187G>A (p.Asp63Asn)	MYLK2 (D63N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1040033	NM_033118.4(MYLK2):c.187G>T (p.Asp63Tyr)	MYLK2 (D63Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1124330	NM_033118.4(MYLK2):c.189T>C (p.Asp63=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 429230	NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala)	MYLK2 (G64A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 191736	NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile)	MYLK2 (T65I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1455880	NM_033118.4(MYLK2):c.204A>G (p.Gln68=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2969408	NM_033118.4(MYLK2):c.205C>T (p.Pro69Ser)	MYLK2 (P69S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1785344	NM_033118.4(MYLK2):c.206C>A (p.Pro69His)	MYLK2 (P69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2114613	NM_033118.4(MYLK2):c.208T>A (p.Ser70Thr)	MYLK2 (S70T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 864386	NM_033118.4(MYLK2):c.223G>A (p.Gly75Ser)	MYLK2 (G75S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2004719	NM_033118.4(MYLK2):c.224G>A (p.Gly75Asp)	MYLK2 (G75D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 191737	NM_033118.4(MYLK2):c.226C>T (p.Pro76Ser)	MYLK2 (P76S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1412618	NM_033118.4(MYLK2):c.227C>T (p.Pro76Leu)	MYLK2 (P76L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2826051	NM_033118.4(MYLK2):c.240T>G (p.Gly80=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2199273	NM_033118.4(MYLK2):c.243C>G (p.Asp81Glu)	MYLK2 (D81E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 406159	NM_033118.4(MYLK2):c.244_245del (p.Arg82fs)	MYLK2 (R82fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1910738	NM_033118.4(MYLK2):c.249C>A (p.Gly83=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 512223	NM_033118.4(MYLK2):c.249C>T (p.Gly83=)	MYLK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2808498	NM_033118.4(MYLK2):c.255del (p.Ala87fs)	MYLK2 (A87fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 943373	NM_033118.4(MYLK2):c.250G>A (p.Gly84Arg)	MYLK2 (G84R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 1792669	NM_033118.4(MYLK2):c.252G>A (p.Gly84=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2762248	NM_033118.4(MYLK2):c.253G>A (p.Gly85Arg)	MYLK2 (G85R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance

<< First< Prev

Page of 7