FDX2-ZGLP1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 148

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 3193461	NM_001409033.1(ZGLP1):c.758A>G (p.Asn253Ser)	FDX2-ZGLP1, LOC126862854 +1 more (N253S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3334643	NM_001409033.1(ZGLP1):c.718G>A (p.Gly240Ser)	FDX2-ZGLP1, LOC126862854 +1 more (G240S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193460	NM_001409033.1(ZGLP1):c.605C>T (p.Ala202Val)	FDX2-ZGLP1, LOC126862854 +1 more (A202V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524725	NM_001409033.1(ZGLP1):c.580G>A (p.Glu194Lys)	FDX2-ZGLP1, LOC126862854 +1 more (E194K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334640	NM_001409033.1(ZGLP1):c.578C>G (p.Thr193Ser)	FDX2-ZGLP1, LOC126862854 +1 more (T191S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2614194	NM_001409033.1(ZGLP1):c.568C>A (p.Pro190Thr)	FDX2-ZGLP1, LOC126862854 +1 more (P190T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236517	NM_001409033.1(ZGLP1):c.541G>C (p.Asp181His)	FDX2-ZGLP1, LOC126862854 +1 more (D179H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193459	NM_001409033.1(ZGLP1):c.520C>T (p.Arg174Cys)	FDX2-ZGLP1, LOC126862854 +1 more (R174C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334642	NM_001409033.1(ZGLP1):c.427G>A (p.Asp143Asn)	FDX2-ZGLP1, ZGLP1 (D141N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334641	NM_001409033.1(ZGLP1):c.299A>G (p.Asp100Gly)	FDX2-ZGLP1, ZGLP1 (D98G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193458	NM_001409033.1(ZGLP1):c.233C>T (p.Pro78Leu)	FDX2-ZGLP1, ZGLP1 (P78L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362461	NM_001409033.1(ZGLP1):c.218C>T (p.Pro73Leu)	FDX2-ZGLP1, ZGLP1 (P71L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257738	NM_001409033.1(ZGLP1):c.140C>A (p.Ser47Tyr)	FDX2-ZGLP1, ZGLP1 (S47Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263935	NM_001409033.1(ZGLP1):c.138-41A>T	FDX2-ZGLP1, ZGLP1 (S31C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1291012	NM_001397406.1(FDX2):c.*180C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1898039	NM_001397406.1(FDX2):c.539C>G (p.Pro180Arg)	FDX2, FDX2-ZGLP1 (P180R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187567	NM_001397406.1(FDX2):c.523G>A (p.Val175Met)	FDX2, FDX2-ZGLP1 (V175M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096169	NM_001397406.1(FDX2):c.521A>T (p.Tyr174Phe)	FDX2, FDX2-ZGLP1 (Y174F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370974	NM_001397406.1(FDX2):c.519C>G (p.Phe173Leu)	FDX2, FDX2-ZGLP1 (F173L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383056	NM_001397406.1(FDX2):c.498G>T (p.Leu166=)	FDX2-ZGLP1, FDX2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2037495	NM_001397406.1(FDX2):c.496C>T (p.Leu166=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1645777	NM_001397406.1(FDX2):c.492C>T (p.Phe164=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150290	NM_001397406.1(FDX2):c.486G>A (p.Ala162=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1211513	NM_001397406.1(FDX2):c.471G>A (p.Pro157=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349037	NM_001397406.1(FDX2):c.470C>T (p.Pro157Leu)	FDX2, FDX2-ZGLP1 (P157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120660	NM_001397406.1(FDX2):c.465G>C (p.Leu155=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1955099	NM_001397406.1(FDX2):c.462G>A (p.Val154=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1967318	NM_001397406.1(FDX2):c.460G>A (p.Val154Met)	FDX2, FDX2-ZGLP1 (V157M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345592	NM_001397406.1(FDX2):c.456G>T (p.Gln152His)	FDX2, FDX2-ZGLP1 (Q152H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987628	NM_001397406.1(FDX2):c.447G>C (p.Leu149=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1990019	NM_001397406.1(FDX2):c.443G>A (p.Arg148Gln)	FDX2, FDX2-ZGLP1 (R148Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904965	NM_001397406.1(FDX2):c.442C>T (p.Arg148Trp)	FDX2, FDX2-ZGLP1 (R148W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384778	NM_001397406.1(FDX2):c.441G>A (p.Ser147=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 623644	NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu)	FDX2, FDX2-ZGLP1 (P144L +1 more)	Single nucleotide variant (missense variant)	Inborn mitochondrial myopathy	GLikely pathogenic
Select item 1925830	NM_001397406.1(FDX2):c.420C>T (p.Ala140=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2098533	NM_001397406.1(FDX2):c.416T>C (p.Met139Thr)	FDX2, FDX2-ZGLP1 (M142T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895872	NM_001397406.1(FDX2):c.405C>T (p.Asp135=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922881	NM_001397406.1(FDX2):c.403G>A (p.Asp135Asn)	FDX2, FDX2-ZGLP1 (D138N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413315	NM_001397406.1(FDX2):c.402C>T (p.Asp134=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1915146	NM_001397406.1(FDX2):c.396-15G>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988074	NM_001397406.1(FDX2):c.396-16C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178157	NM_001397406.1(FDX2):c.396-67C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991775	NM_001397406.1(FDX2):c.395+19T>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750491	NM_001397406.1(FDX2):c.387C>T (p.Pro129=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2174488	NM_001397406.1(FDX2):c.386C>T (p.Pro129Leu)	FDX2, FDX2-ZGLP1 (P132L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841353	NM_001397406.1(FDX2):c.330C>G (p.Ala110=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001900	NM_001397406.1(FDX2):c.318A>G (p.Glu106=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1581213	NM_001397406.1(FDX2):c.315T>C (p.Cys105=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986237	NM_001397406.1(FDX2):c.308-6C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928832	NM_001397406.1(FDX2):c.308-11C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190433	NM_001397406.1(FDX2):c.308-164T>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208792	NM_001397406.1(FDX2):c.308-221G>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211431	NM_001397406.1(FDX2):c.308-269C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 1262244	NM_001397406.1(FDX2):c.307+76T>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266746	NM_001397406.1(FDX2):c.307+68_307+69del	FDX2, FDX2-ZGLP1	Deletion (intron variant)	not provided	GBenign
Select item 1229561	NM_001397406.1(FDX2):c.307+69del	FDX2, FDX2-ZGLP1	Deletion (intron variant)	not provided	GBenign
Select item 1237294	NM_001397406.1(FDX2):c.307+67_307+68insA	FDX2, FDX2-ZGLP1	Insertion (intron variant)	not provided	GBenign
Select item 1210704	NM_001397406.1(FDX2):c.307+67_307+68insAA	FDX2, FDX2-ZGLP1	Insertion (intron variant)	not provided	GLikely benign
Select item 1302758	NM_001397406.1(FDX2):c.307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GBenign
Select item 1292151	NM_001397406.1(FDX2):c.307+63_307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GBenign
Select item 1262916	NM_001397406.1(FDX2):c.307+67C>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196236	NM_001397406.1(FDX2):c.307+64_307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1181398	NM_001397406.1(FDX2):c.307+62_307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GBenign
Select item 1221921	NM_001397406.1(FDX2):c.307+38A>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3005766	NM_001397406.1(FDX2):c.307+13C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944779	NM_001397406.1(FDX2):c.307+13C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135418	NM_001397406.1(FDX2):c.307+5G>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1116790	NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly)	FDX2, FDX2-ZGLP1 (D100G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2683477	NM_001397406.1(FDX2):c.271C>T (p.Leu91Phe)	FDX2, FDX2-ZGLP1 (L91F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1439348	NM_001397406.1(FDX2):c.265A>G (p.Asn89Asp)	FDX2, FDX2-ZGLP1 (N89D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927136	NM_001397406.1(FDX2):c.256G>A (p.Val86Ile)	FDX2, FDX2-ZGLP1 (V86I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943467	NM_001397406.1(FDX2):c.255A>G (p.Arg85=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1932539	NM_001397406.1(FDX2):c.231C>T (p.Gly77=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941585	NM_001397406.1(FDX2):c.219A>G (p.Val73=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901498	NM_001397406.1(FDX2):c.216C>T (p.Phe72=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976639	NM_001397406.1(FDX2):c.209T>C (p.Val70Ala)	FDX2, FDX2-ZGLP1 (V70A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1210811	NM_001397406.1(FDX2):c.201-8G>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1651493	NM_001397406.1(FDX2):c.201-13C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420955	NM_001397406.1(FDX2):c.201-23_201-13delinsCTTCT	FDX2, FDX2-ZGLP1	Indel (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1897816	NM_001397406.1(FDX2):c.201-14C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380452	NM_001397406.1(FDX2):c.201-14C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 668503	NM_001397406.1(FDX2):c.201-17C>A	FDX2-ZGLP1, FDX2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1969003	NM_001397406.1(FDX2):c.201-18A>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651494	NM_001397406.1(FDX2):c.201-23_201-18del	FDX2, FDX2-ZGLP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1903296	NM_001397406.1(FDX2):c.201-20G>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952749	NM_001397406.1(FDX2):c.200+15C>G	FDX2, FDX2-ZGLP1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933153	NM_001397406.1(FDX2):c.200+12G>A	FDX2, FDX2-ZGLP1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920671	NM_001397406.1(FDX2):c.200+4A>G	FDX2, FDX2-ZGLP1 +1 more	Single nucleotide variant (intron variant)	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	GUncertain significance
Select item 2998292	NM_001397406.1(FDX2):c.189G>T (p.Arg63=)	FDX2, FDX2-ZGLP1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1513053	NM_001397406.1(FDX2):c.178G>T (p.Gly60Cys)	FDX2, FDX2-ZGLP1 +1 more (G60C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111824	NM_001397406.1(FDX2):c.175G>T (p.Gly59Cys)	FDX2, FDX2-ZGLP1 +1 more (G59C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714360	NM_001397406.1(FDX2):c.175G>A (p.Gly59Ser)	FDX2, FDX2-ZGLP1 +1 more (G59S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423272	NM_001397406.1(FDX2):c.165GGA[1] (p.Glu56del)	FDX2, FDX2-ZGLP1 +1 more (E56del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2808364	NM_001397406.1(FDX2):c.159T>A (p.Ala53=)	LOC130063486, FDX2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1939072	NM_001397406.1(FDX2):c.159T>C (p.Ala53=)	FDX2, FDX2-ZGLP1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 380038	NM_001397406.1(FDX2):c.159T>G (p.Ala53=)	FDX2, FDX2-ZGLP1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign

<< First< Prev

Page of 2