3825[HGNC] - ClinVar

Search results

Items: 88

	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 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807962	GRCh37/hg19 1p31.1(chr1:74501101-74706387)x3	FPGT-TNNI3K, LRRIQ3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1341058	GRCh37/hg19 1p31.1(chr1:73209151-74812480)x3	FPGT, FPGT-TNNI3K +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340425	GRCh37/hg19 1p31.1(chr1:74010838-74849251)x3	FPGT, FPGT-TNNI3K +2 more	Copy number gain	not provided	GUncertain significance
Select item 979896	GRCh37/hg19 1p31.1(chr1:74091361-74706387)x3	FPGT-TNNI3K, LRRIQ3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816524	GRCh37/hg19 1p31.1(chr1:74129905-74702475)x3	FPGT, TNNI3K +2 more	Copy number gain	See cases	GLikely benign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565113	GRCh37/hg19 1p31.1(chr1:74125095-75208561)x1	FPGT, ERICH3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 565112	GRCh37/hg19 1p31.1(chr1:72859282-75395703)x3	TYW3, TNNI3K +5 more	Copy number gain	not provided	GUncertain significance
Select item 565111	GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3	LRRIQ3, FPGT-TNNI3K +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 493562	GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3	ACADM, ASB17 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 88