"GeneDx"[submitter] AND "TMEM70"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 684008	NM_017866.5(TMEM70):c.-468T>C	TMEM70	Single nucleotide variant	not provided	GBenign
Select item 1212724	NC_000008.11:g.73975891T>A	TMEM70	Single nucleotide variant	not provided	GLikely benign
Select item 676048	NM_017866.5(TMEM70):c.-264C>A	LOC130000613, TMEM70	Single nucleotide variant	not provided	GLikely benign
Select item 1707282	NC_000008.11:g.73976058GCGGGCGGCAG[10]	LOC130000613, TMEM70	Microsatellite	not provided	GLikely benign
Select item 1234801	NC_000008.11:g.73976058GCGGGCGGCAG[9]	LOC130000613, TMEM70	Microsatellite	not provided	GBenign
Select item 1248803	NC_000008.11:g.73976058GCGGGCGGCAG[2]	LOC130000613, TMEM70	Microsatellite	not provided	GBenign
Select item 1200878	NC_000008.11:g.73976058GCGGGCGGCAG[5]	LOC130000613, TMEM70	Microsatellite	not provided	GLikely benign
Select item 1183909	NC_000008.11:g.73976058GCGGGCGGCAG[6]	TMEM70, LOC130000613	Microsatellite	not provided	GLikely benign
Select item 509553	NM_017866.6(TMEM70):c.-71_-47dup	TMEM70	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 911838	NM_017866.6(TMEM70):c.-53G>A	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 363687	NM_017866.6(TMEM70):c.-23C>T	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GBenign
Select item 203983	NM_017866.6(TMEM70):c.25C>T (p.Pro9Ser)	TMEM70 (P9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 513097	NM_017866.6(TMEM70):c.42G>A (p.Leu14=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1104245	NM_017866.6(TMEM70):c.69G>T (p.Leu23Phe)	TMEM70 (L23F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 380675	NM_017866.6(TMEM70):c.97C>A (p.Arg33=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 130598	NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro)	TMEM70 (A34P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 203989	NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs)	TMEM70 (S40fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 203984	NM_017866.6(TMEM70):c.116C>G (p.Ala39Gly)	TMEM70 (A39G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 363689	NM_017866.6(TMEM70):c.128G>A (p.Ser43Asn)	TMEM70 (S43N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1225037	NM_017866.6(TMEM70):c.210+131C>G	TMEM70	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678664	NM_017866.6(TMEM70):c.210+167G>C	TMEM70	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674053	NM_017866.6(TMEM70):c.211-275A>G	TMEM70	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675845	NM_017866.6(TMEM70):c.211-193A>G	TMEM70	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255003	NM_017866.6(TMEM70):c.211-53dup	TMEM70	Duplication (intron variant)	not provided	GBenign
Select item 1268951	NM_017866.6(TMEM70):c.211-30A>G	TMEM70	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137677	NM_017866.6(TMEM70):c.211-6C>T	TMEM70	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 30958	NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter)	TMEM70 (R80*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 909748	NM_017866.6(TMEM70):c.239G>A (p.Arg80Gln)	TMEM70 (R80Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1241243	NM_017866.6(TMEM70):c.316+68A>G	TMEM70	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269381	NM_017866.6(TMEM70):c.316+104A>G	TMEM70	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420474	NM_017866.6(TMEM70):c.317-23CT[3]	TMEM70	Microsatellite (intron variant)	not specified	GLikely benign
Select item 389749	NM_017866.6(TMEM70):c.317-16T>C	TMEM70	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 540	NM_017866.6(TMEM70):c.317-2A>G	TMEM70	Single nucleotide variant (splice acceptor variant)	TMEM70-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 130599	NM_017866.6(TMEM70):c.346C>G (p.Leu116Val)	TMEM70 (L116V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 1524311	NM_017866.6(TMEM70):c.359del (p.Thr120fs)	TMEM70 (T120fs)	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 137678	NM_017866.6(TMEM70):c.379A>G (p.Thr127Ala)	TMEM70 (T127A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 203985	NM_017866.6(TMEM70):c.455C>T (p.Thr152Met)	TMEM70 (T152M)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817459	NM_017866.6(TMEM70):c.500del (p.Val167fs)	TMEM70 (V167fs)	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2072975	NM_017866.6(TMEM70):c.515A>G (p.His172Arg)	TMEM70 (H172R)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GUncertain significance
Select item 363691	NM_017866.6(TMEM70):c.534T>C (p.Thr178=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 203986	NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys)	TMEM70 (N185K)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 419199	NM_017866.6(TMEM70):c.578_579del (p.Thr193fs)	TMEM70 (T193fs)	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203987	NM_017866.6(TMEM70):c.578C>T (p.Thr193Ile)	TMEM70 (T193I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 218747	NM_017866.6(TMEM70):c.580G>A (p.Val194Met)	TMEM70 (V194M)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 385679	NM_017866.6(TMEM70):c.588C>T (p.His196=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GLikely benign
Select item 654240	NM_017866.6(TMEM70):c.613G>T (p.Ala205Ser)	TMEM70 (A205S)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GUncertain significance
Select item 770077	NM_017866.6(TMEM70):c.654A>G (p.Ser218=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 381075	NM_017866.6(TMEM70):c.675C>T (p.Leu225=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 137679	NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys)	TMEM70 (N228K)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 388158	NM_017866.6(TMEM70):c.690A>G (p.Glu230=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 203981	NM_017866.6(TMEM70):c.730A>G (p.Ile244Val)	TMEM70 (I244V)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GUncertain significance
Select item 130600	NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala)	TMEM70 (T250A)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 514771	NM_017866.6(TMEM70):c.759G>A (p.Glu253=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 203982	NM_017866.6(TMEM70):c.764G>A (p.Arg255Gln)	TMEM70 (R255Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3363620	NM_017866.6(TMEM70):c.766C>T (p.His256Tyr)	TMEM70 (H256Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 858028	NM_017866.6(TMEM70):c.769A>T (p.Lys257Ter)	TMEM70 (K257*)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GUncertain significance
Select item 130601	NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu)	TMEM70 (D259E)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GBenign
Select item 1192081	NM_017866.6(TMEM70):c.*19G>T	TMEM70	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 363693	NM_017866.6(TMEM70):c.*24C>T	TMEM70	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GBenign
Select item 363695	NM_017866.6(TMEM70):c.*169A>G	TMEM70	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GBenign
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 63