KBTBD13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 1037884	NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del)	KBTBD13	Deletion (inframe_deletion +1 more)	Nemaline myopathy 6	GUncertain significance
Select item 389836	NM_001101362.3(KBTBD13):c.-17C>T	KBTBD13	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506681	NM_001101362.3(KBTBD13):c.-16G>A	KBTBD13	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 257449	NM_001101362.3(KBTBD13):c.-13C>T	KBTBD13	Single nucleotide variant (5 prime UTR variant)	Nemaline Myopathy, Dominant +1 more	GBenign/Likely benign
Select item 3044066	NM_001101362.3(KBTBD13):c.-3G>A	KBTBD13	Single nucleotide variant (5 prime UTR variant)	KBTBD13-related condition	GLikely benign
Select item 756591	NM_001101362.3(KBTBD13):c.2T>A (p.Met1Lys)	KBTBD13 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 464353	NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg)	KBTBD13 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316733	NM_001101362.3(KBTBD13):c.7C>T (p.Arg3Trp)	KBTBD13 (R3W)	Single nucleotide variant (missense variant)	Nemaline Myopathy, Dominant	GLikely benign
Select item 1056635	NM_001101362.3(KBTBD13):c.8G>A (p.Arg3Gln)	KBTBD13 (R3Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 931119	NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp)	KBTBD13 (G4D)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 839630	NM_001101362.3(KBTBD13):c.13C>G (p.Pro5Ala)	KBTBD13 (P5A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 503946	NM_001101362.3(KBTBD13):c.15dup (p.Gln6fs)	KBTBD13 (Q6fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1382341	NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu)	KBTBD13 (Q6E)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2150003	NM_001101362.3(KBTBD13):c.21C>T (p.Thr7=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2140881	NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro)	KBTBD13 (L8P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1156510	NM_001101362.3(KBTBD13):c.24G>A (p.Leu8=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2153471	NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)	KBTBD13 (V9L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2645454	NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)	KBTBD13	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2145147	NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)	KBTBD13 (V11M)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 3003390	NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)	KBTBD13 (W12G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2853036	NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)	KBTBD13 (G14S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 580196	NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser)	KBTBD13 (G15S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +1 more	GConflicting classifications of pathogenicity
Select item 1010340	NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp)	KBTBD13 (G15D)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 792617	NM_001101362.3(KBTBD13):c.53T>G (p.Phe18Cys)	KBTBD13 (F18C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 852468	NM_001101362.3(KBTBD13):c.58G>C (p.Ala20Pro)	KBTBD13 (A20P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 2129024	NM_001101362.3(KBTBD13):c.62A>C (p.Asp21Ala)	KBTBD13 (D21A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 532992	NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly)	KBTBD13 (R22G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1715390	NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)	KBTBD13 (R22L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1127697	NM_001101362.3(KBTBD13):c.72G>T (p.Leu24=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 1420272	NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu)	KBTBD13 (V26L)	Indel (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 797759	NM_001101362.3(KBTBD13):c.75G>C (p.Leu25=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 1420317	NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met)	KBTBD13 (V26M)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1472275	NM_001101362.3(KBTBD13):c.79G>A (p.Glu27Lys)	KBTBD13 (E27K)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 857480	NM_001101362.3(KBTBD13):c.82C>T (p.His28Tyr)	KBTBD13 (H28Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2026544	NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg)	KBTBD13 (H28R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 703644	NM_001101362.3(KBTBD13):c.85T>C (p.Cys29Arg)	KBTBD13 (C29R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 1368417	NM_001101362.3(KBTBD13):c.86del (p.Cys29fs)	KBTBD13 (C29fs)	Deletion (frameshift variant)	Nemaline myopathy 6	GUncertain significance
Select item 257459	NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp)	KBTBD13 (G30D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1576855	NM_001101362.3(KBTBD13):c.90C>G (p.Gly30=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 1150873	NM_001101362.3(KBTBD13):c.90C>T (p.Gly30=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 1927026	NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)	KBTBD13 (R33G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 576578	NM_001101362.3(KBTBD13):c.98G>C (p.Arg33Pro)	KBTBD13 (R33P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 464365	NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln)	KBTBD13 (R33Q)	Single nucleotide variant (missense variant)	KBTBD13-related condition +2 more	GUncertain significance
Select item 942450	NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp)	KBTBD13 (G34D)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1969156	NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)	KBTBD13 (L35F)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2808990	NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)	KBTBD13 (S38C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 741025	NM_001101362.3(KBTBD13):c.114C>T (p.Ser38=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 1305629	NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys)	KBTBD13 (G39C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +1 more	GUncertain significance
Select item 377996	NM_001101362.3(KBTBD13):c.115G>C (p.Gly39Arg)	KBTBD13 (G39R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 316734	NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6 +1 more	GBenign/Likely benign
Select item 1481987	NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val)	KBTBD13 (M40V)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2063736	NM_001101362.3(KBTBD13):c.121C>A (p.Arg41=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 1037225	NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp)	KBTBD13 (R41W)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 532991	NM_001101362.3(KBTBD13):c.122G>A (p.Arg41Gln)	KBTBD13 (R41Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1394516	NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro)	KBTBD13 (R44P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 723784	NM_001101362.3(KBTBD13):c.132C>T (p.Arg44=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 3067479	NM_001101362.3(KBTBD13):c.133G>A (p.Ala45Thr)	KBTBD13 (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142202	NM_001101362.3(KBTBD13):c.133G>T (p.Ala45Ser)	KBTBD13 (A45S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GBenign
Select item 2728958	NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)	KBTBD13 (A46P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2142142	NM_001101362.3(KBTBD13):c.138A>C (p.Ala46=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2995074	NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)	KBTBD13 (E47K)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2195418	NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)	KBTBD13 (E47G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2154321	NM_001101362.3(KBTBD13):c.141G>A (p.Glu47=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2189076	NM_001101362.3(KBTBD13):c.142G>T (p.Val48Leu)	KBTBD13 (V48L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 2847919	NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)	KBTBD13 (V48A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2975877	NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)	KBTBD13 (R49C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2082628	NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro)	KBTBD13 (R49P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 533001	NM_001101362.3(KBTBD13):c.146G>T (p.Arg49Leu)	KBTBD13 (R49L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2958883	NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)	KBTBD13 (G51A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1433029	NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile)	KBTBD13 (V52I)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 763184	NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GConflicting classifications of pathogenicity
Select item 257452	NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr)	KBTBD13 (A55T)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +1 more	GBenign/Likely benign
Select item 656653	NM_001101362.3(KBTBD13):c.164C>T (p.Ala55Val)	KBTBD13 (A55V)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2088910	NM_001101362.3(KBTBD13):c.165G>A (p.Ala55=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 1673486	NM_001101362.3(KBTBD13):c.165G>C (p.Ala55=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2432981	NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)	KBTBD13 (G56R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 464346	NM_001101362.3(KBTBD13):c.167G>A (p.Gly56Glu)	KBTBD13 (G56E)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1502844	NM_001101362.3(KBTBD13):c.172_191del (p.Phe58fs)	KBTBD13 (F58fs)	Deletion (frameshift variant)	Nemaline myopathy 6	GBenign
Select item 464347	NM_001101362.3(KBTBD13):c.168A>C (p.Gly56=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 532998	NM_001101362.3(KBTBD13):c.170del (p.Gly57fs)	KBTBD13 (G57fs)	Deletion (frameshift variant)	Nemaline myopathy 6	GUncertain significance
Select item 514033	NM_001101362.3(KBTBD13):c.171T>C (p.Gly57=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6 +1 more	GBenign/Likely benign
Select item 2160014	NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)	KBTBD13 (F58L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +1 more	GUncertain significance
Select item 2008416	NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly)	KBTBD13 (R59G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1029078	NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys)	KBTBD13 (R59C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2432984	NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)	KBTBD13 (R59Q)	Indel (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 1950231	NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His)	KBTBD13 (R59H)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2144338	NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro)	KBTBD13 (A60P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2989350	NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)	KBTBD13 (T61M)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 949017	NM_001101362.3(KBTBD13):c.185T>C (p.Leu62Pro)	KBTBD13 (L62P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 257453	NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu)	KBTBD13 (Q63L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 464348	NM_001101362.3(KBTBD13):c.189G>A (p.Gln63=)	KBTBD13	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1923181	NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly)	KBTBD13 (V64G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2975196	NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)	KBTBD13 (L65P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 393161	NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His)	KBTBD13 (R66H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1553704	NM_001101362.3(KBTBD13):c.198C>A (p.Arg66=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2179808	NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)	KBTBD13 (G67S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 850922	NM_001101362.3(KBTBD13):c.199G>C (p.Gly67Arg)	KBTBD13 (G67R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 464349	NM_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp)	KBTBD13 (R69W)	Single nucleotide variant (missense variant)	KBTBD13-related condition +1 more	GConflicting classifications of pathogenicity

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