42952[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 2313234	NM_001112808.3(FPGT-TNNI3K):c.-32C>A	FPGT, FPGT-TNNI3K	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2313233	NM_003838.5(FPGT):c.8C>A (p.Ala3Asp)	FPGT, FPGT-TNNI3K (A3D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279715	NM_003838.5(FPGT):c.16G>T (p.Asp6Tyr)	FPGT, FPGT-TNNI3K (D6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609167	NM_003838.5(FPGT):c.73G>A (p.Glu25Lys)	FPGT, FPGT-TNNI3K (E25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279709	NM_003838.5(FPGT):c.97C>T (p.Arg33Cys)	FPGT, FPGT-TNNI3K (R33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611017	NM_003838.5(FPGT):c.118G>A (p.Val40Ile)	FPGT, FPGT-TNNI3K (V40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537612	NM_001112808.3(FPGT-TNNI3K):c.146A>G (p.Gln49Arg)	FPGT, FPGT-TNNI3K (Q49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537611	NM_003838.5(FPGT):c.185A>G (p.Lys62Arg)	FPGT, FPGT-TNNI3K (K62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324349	NM_003838.5(FPGT):c.235G>C (p.Ala79Pro)	FPGT, FPGT-TNNI3K (A79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410042	NM_003838.5(FPGT):c.238G>A (p.Gly80Arg)	FPGT, FPGT-TNNI3K (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623873	NM_003838.5(FPGT):c.294G>C (p.Lys98Asn)	FPGT, FPGT-TNNI3K (K98N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275829	NM_003838.5(FPGT):c.325A>G (p.Ile109Val)	FPGT, FPGT-TNNI3K (I109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096651	NM_003838.5(FPGT):c.341C>G (p.Ser114Cys)	FPGT, FPGT-TNNI3K (S114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380793	NM_003838.5(FPGT):c.350A>G (p.Tyr117Cys)	FPGT, FPGT-TNNI3K (Y117C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327442	NM_003838.5(FPGT):c.440A>G (p.Lys147Arg)	FPGT, FPGT-TNNI3K (K147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588669	NM_003838.5(FPGT):c.475A>C (p.Asn159His)	FPGT, FPGT-TNNI3K (N159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592103	NM_003838.5(FPGT):c.518A>G (p.Tyr173Cys)	FPGT, FPGT-TNNI3K (Y173C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247614	NM_003838.5(FPGT):c.564T>G (p.Phe188Leu)	FPGT, FPGT-TNNI3K (F188L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291687	NM_003838.5(FPGT):c.586A>G (p.Ser196Gly)	FPGT, FPGT-TNNI3K (S196G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602412	NM_003838.5(FPGT):c.625G>T (p.Asp209Tyr)	FPGT, FPGT-TNNI3K (D209Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332544	NM_003838.5(FPGT):c.634G>C (p.Asp212His)	FPGT, FPGT-TNNI3K (D212H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279712	NM_003838.5(FPGT):c.648T>A (p.His216Gln)	FPGT, FPGT-TNNI3K (H216Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279711	NM_003838.5(FPGT):c.658G>C (p.Glu220Gln)	FPGT, FPGT-TNNI3K (E220Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096652	NM_003838.5(FPGT):c.676C>T (p.Arg226Cys)	FPGT, FPGT-TNNI3K (R226C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279713	NM_003838.5(FPGT):c.691C>T (p.Pro231Ser)	FPGT, FPGT-TNNI3K (P231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381804	NM_003838.5(FPGT):c.694A>G (p.Ser232Gly)	FPGT, FPGT-TNNI3K (S232G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533858	NM_003838.5(FPGT):c.697A>G (p.Ile233Val)	FPGT, FPGT-TNNI3K (I233V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263014	NM_003838.5(FPGT):c.743T>C (p.Phe248Ser)	FPGT, FPGT-TNNI3K (F248S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250909	NM_003838.5(FPGT):c.778G>A (p.Asp260Asn)	FPGT, FPGT-TNNI3K (D260N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279716	NM_003838.5(FPGT):c.827T>G (p.Met276Arg)	FPGT, FPGT-TNNI3K (M276R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267181	NM_003838.5(FPGT):c.945G>T (p.Glu315Asp)	FPGT, FPGT-TNNI3K (E315D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369828	NM_003838.5(FPGT):c.995A>G (p.Glu332Gly)	FPGT, FPGT-TNNI3K (E332G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096641	NM_003838.5(FPGT):c.1012T>G (p.Phe338Val)	FPGT, FPGT-TNNI3K (F338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096642	NM_003838.5(FPGT):c.1055A>G (p.Asn352Ser)	FPGT, FPGT-TNNI3K (N352S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371474	NM_003838.5(FPGT):c.1087G>A (p.Glu363Lys)	FPGT, FPGT-TNNI3K (E363K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528812	NM_003838.5(FPGT):c.1094A>G (p.Tyr365Cys)	FPGT, FPGT-TNNI3K (Y365C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516272	NM_003838.5(FPGT):c.1150A>T (p.Ile384Leu)	FPGT, FPGT-TNNI3K (I384L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480223	NM_003838.5(FPGT):c.1153A>C (p.Thr385Pro)	FPGT, FPGT-TNNI3K (T385P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404753	NM_003838.5(FPGT):c.1160G>A (p.Ser387Asn)	FPGT, FPGT-TNNI3K (S387N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096643	NM_003838.5(FPGT):c.1168C>G (p.Pro390Ala)	FPGT, FPGT-TNNI3K (F117L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279710	NM_003838.5(FPGT):c.1176A>G (p.Ile392Met)	FPGT, FPGT-TNNI3K (I392M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279708	NM_003838.5(FPGT):c.1257G>A (p.Val419=)	FPGT, FPGT-TNNI3K (W147*)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2638877	NM_003838.5(FPGT):c.1297A>G (p.Asn433Asp)	FPGT, FPGT-TNNI3K (N179D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2412284	NM_003838.5(FPGT):c.1321A>C (p.Ile441Leu)	FPGT, FPGT-TNNI3K (I187L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373144	NM_003838.5(FPGT):c.1348C>T (p.His450Tyr)	FPGT, FPGT-TNNI3K (H450Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2468056	NM_003838.5(FPGT):c.1370G>A (p.Ser457Asn)	FPGT, FPGT-TNNI3K (S203N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378901	NM_003838.5(FPGT):c.1439G>A (p.Ser480Asn)	FPGT, FPGT-TNNI3K (S226N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3096644	NM_003838.5(FPGT):c.1454C>T (p.Ser485Leu)	FPGT, FPGT-TNNI3K (S485L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263677	NM_003838.5(FPGT):c.1456G>C (p.Asp486His)	FPGT, FPGT-TNNI3K (D232H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3279714	NM_003838.5(FPGT):c.1459A>G (p.Ile487Val)	FPGT, FPGT-TNNI3K (I233V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313457	NM_003838.5(FPGT):c.1466T>C (p.Leu489Ser)	FPGT, FPGT-TNNI3K (L235S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248236	NM_003838.5(FPGT):c.1533A>C (p.Glu511Asp)	FPGT, FPGT-TNNI3K (E257D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096646	NM_003838.5(FPGT):c.1544G>T (p.Gly515Val)	FPGT, FPGT-TNNI3K (G261V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369936	NM_003838.5(FPGT):c.1547A>G (p.Asn516Ser)	FPGT, FPGT-TNNI3K (N262S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399494	NM_003838.5(FPGT):c.1604G>A (p.Ser535Asn)	FPGT, FPGT-TNNI3K (S535N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408667	NM_003838.5(FPGT):c.1613T>A (p.Val538Asp)	FPGT, FPGT-TNNI3K (V538D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096647	NM_003838.5(FPGT):c.1665C>G (p.Ser555Arg)	FPGT, FPGT-TNNI3K (S301R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096648	NM_003838.5(FPGT):c.1666C>G (p.Leu556Val)	FPGT, FPGT-TNNI3K (L302V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321150	NM_003838.5(FPGT):c.1676A>G (p.Tyr559Cys)	FPGT, FPGT-TNNI3K (Y305C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096649	NM_003838.5(FPGT):c.1720G>A (p.Glu574Lys)	FPGT, FPGT-TNNI3K (E320K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096650	NM_003838.5(FPGT):c.1758A>T (p.Glu586Asp)	FPGT, FPGT-TNNI3K (E586D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2864977	NM_015978.3(TNNI3K):c.1A>G (p.Met1Val)	FPGT-TNNI3K, TNNI3K (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1965408	NM_015978.3(TNNI3K):c.2T>A (p.Met1Lys)	FPGT-TNNI3K, TNNI3K (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2003186	NM_015978.3(TNNI3K):c.10_16del (p.Tyr4fs)	FPGT-TNNI3K, TNNI3K (Y4fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3068706	NM_015978.3(TNNI3K):c.19A>G (p.Arg7Gly)	FPGT-TNNI3K, TNNI3K (R7G)	Single nucleotide variant (missense variant +1 more)	Atrial conduction disease	GUncertain significance
Select item 1556909	NM_015978.3(TNNI3K):c.21A>G (p.Arg7=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916218	NM_015978.3(TNNI3K):c.22C>T (p.Pro8Ser)	FPGT-TNNI3K, TNNI3K (P8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757644	NM_015978.3(TNNI3K):c.23C>A (p.Pro8Gln)	FPGT-TNNI3K, TNNI3K (P8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2705577	NM_015978.3(TNNI3K):c.27C>A (p.Thr9=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056631	NM_015978.3(TNNI3K):c.28C>A (p.Gln10Lys)	FPGT-TNNI3K, TNNI3K (Q10K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016648	NM_015978.3(TNNI3K):c.38_40+3del	FPGT-TNNI3K, TNNI3K	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 1460658	NM_015978.3(TNNI3K):c.35G>A (p.Cys12Tyr)	FPGT-TNNI3K, TNNI3K (C12Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004573	NM_015978.3(TNNI3K):c.37A>G (p.Thr13Ala)	FPGT-TNNI3K, TNNI3K (T13A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516938	NM_015978.3(TNNI3K):c.40+2T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1273965	NM_015978.3(TNNI3K):c.40+120T>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258735	NM_015978.3(TNNI3K):c.41-135A>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1583066	NM_015978.3(TNNI3K):c.41-19A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804783	NM_015978.3(TNNI3K):c.41-15G>T	TNNI3K, FPGT-TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536878	NM_015978.3(TNNI3K):c.41-15G>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543294	NM_015978.3(TNNI3K):c.41-12C>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964468	NM_015978.3(TNNI3K):c.41-6dup	FPGT-TNNI3K, TNNI3K	Duplication (intron variant)	not provided	GLikely benign
Select item 2797766	NM_015978.3(TNNI3K):c.41A>G (p.Asp14Gly)	FPGT-TNNI3K, TNNI3K (D115G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181674	NM_015978.3(TNNI3K):c.42T>A (p.Asp14Glu)	FPGT-TNNI3K, TNNI3K (D14E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855796	NM_015978.3(TNNI3K):c.43G>A (p.Glu15Lys)	FPGT-TNNI3K, TNNI3K (E15K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843560	NM_015978.3(TNNI3K):c.57A>T (p.Lys19Asn)	FPGT-TNNI3K, TNNI3K (K120N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796647	NM_015978.3(TNNI3K):c.62_69del (p.Ser21fs)	FPGT-TNNI3K, TNNI3K (S21fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1357020	NM_015978.3(TNNI3K):c.76A>G (p.Ile26Val)	FPGT-TNNI3K, TNNI3K (I26V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441889	NM_015978.3(TNNI3K):c.77T>C (p.Ile26Thr)	FPGT-TNNI3K, TNNI3K (I26T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699680	NM_015978.3(TNNI3K):c.81A>G (p.Thr27=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097053	NM_015978.3(TNNI3K):c.85G>A (p.Glu29Lys)	FPGT-TNNI3K, TNNI3K (E29K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839806	NM_015978.3(TNNI3K):c.89G>T (p.Arg30Ile)	FPGT-TNNI3K, TNNI3K (R131I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819618	NM_015978.3(TNNI3K):c.90A>G (p.Arg30=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068614	NM_015978.3(TNNI3K):c.92T>G (p.Leu31Ter)	FPGT-TNNI3K, TNNI3K (L132* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1971776	NM_015978.3(TNNI3K):c.106C>T (p.Gln36Ter)	FPGT-TNNI3K, TNNI3K (Q137* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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