ClinVar for Gene (Select 60386) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163613	NM_001126121.2(SLC25A19):c.890G>T (p.Gly297Val)	MIF4GD-DT, SLC25A19 (G297V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163612	NM_001126121.2(SLC25A19):c.616G>C (p.Ala206Pro)	SLC25A19 (A206P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063533	GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1	CASKIN2, GRB2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 3045153	NM_001126121.2(SLC25A19):c.*4C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	SLC25A19-related disorder	GLikely benign
Select item 2984574	NM_001126121.2(SLC25A19):c.775-6C>T	MIF4GD-DT, SLC25A19	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2914510	NM_001126121.2(SLC25A19):c.774+8G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911633	NM_001126121.2(SLC25A19):c.311C>T (p.Thr104Met)	SLC25A19 (T104M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901460	NM_001126121.2(SLC25A19):c.132+13T>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840994	NM_001126121.2(SLC25A19):c.317T>C (p.Leu106Pro)	SLC25A19 (L106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793870	NM_001126121.2(SLC25A19):c.489G>A (p.Gly163=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783600	NM_001126121.2(SLC25A19):c.133-8A>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772423	NM_001126121.2(SLC25A19):c.644-18C>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759264	NM_001126121.2(SLC25A19):c.460-15C>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742146	NM_001126121.2(SLC25A19):c.549C>T (p.Ile183=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740464	NM_001126121.2(SLC25A19):c.480C>T (p.His160=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733108	NM_001126121.2(SLC25A19):c.708G>A (p.Pro236=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722383	NM_001126121.2(SLC25A19):c.60G>A (p.Val20=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2684855	GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3	CASKIN2, GRB2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2585316	NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys)	SLC25A19 (E250K)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2547693	NM_001126121.2(SLC25A19):c.406G>A (p.Val136Met)	SLC25A19 (V136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 2467465	NM_001126121.2(SLC25A19):c.467A>G (p.Asn156Ser)	SLC25A19 (N156S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435992	NM_001126121.2(SLC25A19):c.433C>A (p.Arg145Ser)	SLC25A19 (R145S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435991	NM_001126121.2(SLC25A19):c.115A>T (p.Ile39Phe)	SLC25A19 (I39F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394315	NM_001126121.2(SLC25A19):c.905C>T (p.Ser302Leu)	MIF4GD-DT, SLC25A19 (S302L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279940	NM_001126121.2(SLC25A19):c.239A>C (p.Lys80Thr)	SLC25A19 (K80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231350	NM_001126121.2(SLC25A19):c.905C>G (p.Ser302Trp)	MIF4GD-DT, SLC25A19 (S302W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2217569	NM_001126121.2(SLC25A19):c.487G>A (p.Gly163Arg)	SLC25A19 (G163R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209933	NM_001126121.2(SLC25A19):c.247G>A (p.Val83Ile)	SLC25A19 (V83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2201967	NM_001126121.2(SLC25A19):c.333C>T (p.Ser111=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197937	NM_001126121.2(SLC25A19):c.154C>T (p.Arg52Cys)	SLC25A19 (R52C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2194202	NM_001126121.2(SLC25A19):c.108C>T (p.Phe36=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184796	NM_001126121.2(SLC25A19):c.805G>A (p.Ala269Thr)	MIF4GD-DT, SLC25A19 (A269T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2184578	NM_001126121.2(SLC25A19):c.550G>A (p.Ala184Thr)	SLC25A19 (A184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170632	NM_001126121.2(SLC25A19):c.571C>T (p.Leu191=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162573	NM_001126121.2(SLC25A19):c.959G>A (p.Arg320His)	MIF4GD-DT, SLC25A19 (R320H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2161905	NM_001126121.2(SLC25A19):c.66G>T (p.Gly22=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161481	NM_001126121.2(SLC25A19):c.774+7C>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2152870	NM_001126121.2(SLC25A19):c.111C>T (p.Asp37=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145261	NM_001126121.2(SLC25A19):c.219G>A (p.Glu73=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098501	NM_001126121.2(SLC25A19):c.792C>T (p.Gly264=)	MIF4GD-DT, SLC25A19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2078681	NM_001126121.2(SLC25A19):c.343G>A (p.Ala115Thr)	SLC25A19 (A115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049967	NM_001126121.2(SLC25A19):c.235T>C (p.Trp79Arg)	SLC25A19 (W79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028341	NM_001126121.2(SLC25A19):c.460-20A>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026674	NM_001126121.2(SLC25A19):c.459+4A>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2011273	NM_001126121.2(SLC25A19):c.379C>T (p.Leu127=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007219	NM_001126121.2(SLC25A19):c.91G>T (p.Ala31Ser)	SLC25A19 (A31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005200	NM_001126121.2(SLC25A19):c.133-1G>T	SLC25A19	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2005002	NM_001126121.2(SLC25A19):c.939G>T (p.Met313Ile)	MIF4GD-DT, SLC25A19 (M313I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2000757	NM_001126121.2(SLC25A19):c.181G>A (p.Gly61Ser)	SLC25A19 (G61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994780	NM_001126121.2(SLC25A19):c.476_477delinsTT (p.Arg159Leu)	SLC25A19 (R159L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1982510	NM_001126121.2(SLC25A19):c.477C>T (p.Arg159=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977898	NM_001126121.2(SLC25A19):c.62C>A (p.Ala21Asp)	SLC25A19 (A21D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966538	NM_001126121.2(SLC25A19):c.55G>A (p.Ala19Thr)	SLC25A19 (A19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966194	NM_001126121.2(SLC25A19):c.550G>T (p.Ala184Ser)	SLC25A19 (A184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952770	NM_001126121.2(SLC25A19):c.288+19G>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934251	NM_001126121.2(SLC25A19):c.511C>A (p.Pro171Thr)	SLC25A19 (P171T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1931527	NM_001126121.2(SLC25A19):c.145C>T (p.Arg49Cys)	SLC25A19 (R49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927596	NM_001126121.2(SLC25A19):c.838G>A (p.Gly280Ser)	MIF4GD-DT, SLC25A19 (G280S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1926383	NM_001126121.2(SLC25A19):c.460-17T>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910845	NM_001126121.2(SLC25A19):c.628G>A (p.Glu210Lys)	SLC25A19 (E210K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903699	NM_001126121.2(SLC25A19):c.288+5del	SLC25A19	Deletion (intron variant)	not provided	GUncertain significance
Select item 1897650	NM_001126121.2(SLC25A19):c.342C>T (p.Asp114=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695342	NM_001126121.2(SLC25A19):c.910G>A (p.Glu304Lys)	MIF4GD-DT, SLC25A19 (E304K)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 1695341	NM_001126121.2(SLC25A19):c.76G>A (p.Gly26Arg)	SLC25A19 (G26R)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 1695340	NM_001126121.2(SLC25A19):c.745T>A (p.Phe249Ile)	SLC25A19 (F249I)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 1695339	NM_001126121.2(SLC25A19):c.869T>A (p.Leu290Gln)	MIF4GD-DT, SLC25A19 (L290Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 1695338	NM_001126121.2(SLC25A19):c.576G>C (p.Gln192His)	SLC25A19 (Q192H)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis	GPathogenic
Select item 1611961	NM_001126121.2(SLC25A19):c.484G>A (p.Val162Met)	SLC25A19 (V162M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1610492	NM_001126121.2(SLC25A19):c.207T>C (p.Ile69=)	SLC25A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526586	GRCh37/hg19 17q25.1(chr17:73049227-73533226)	ARMC7, CASKIN2 +14 more	Copy number loss	not specified	GUncertain significance
Select item 1480823	NM_001126121.2(SLC25A19):c.635A>G (p.Lys212Arg)	SLC25A19 (K212R)	Single nucleotide variant (missense variant)	Progressive demyelinating neuropathy with bilateral striatal necrosis +1 more	GUncertain significance
Select item 1462556	NM_001126121.2(SLC25A19):c.727C>T (p.Arg243Trp)	SLC25A19 (R243W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440923	NM_001126121.2(SLC25A19):c.685A>C (p.Ile229Leu)	SLC25A19 (I229L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394668	NM_001126121.2(SLC25A19):c.541A>G (p.Thr181Ala)	SLC25A19 (T181A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394654	NM_001126121.2(SLC25A19):c.644-3C>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1377280	NC_000017.10:g.(?_73204602)_(73515148_?)dup	CASKIN2, GGA3 +7 more	Duplication	not provided	GUncertain significance
Select item 1372996	NM_001126121.2(SLC25A19):c.497A>T (p.Tyr166Phe)	SLC25A19 (Y166F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340452	GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3	ARMC7, GGA3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1337415	NM_001126121.2(SLC25A19):c.428G>A (p.Arg143His)	SLC25A19 (R143H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1295732	NM_001126121.2(SLC25A19):c.288+179G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292177	NM_001126121.2(SLC25A19):c.460-142C>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292134	NM_001126121.2(SLC25A19):c.-128-81dup	SLC25A19	Duplication (intron variant)	not provided	GBenign
Select item 1292084	NM_001126121.2(SLC25A19):c.132+78G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292083	NM_001126121.2(SLC25A19):c.288+86G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291032	NM_001126121.2(SLC25A19):c.643+52A>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290939	NM_001126121.2(SLC25A19):c.289-26G>A	SLC25A19	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1286760	NM_001126121.2(SLC25A19):c.289-267T>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264872	NM_001126121.2(SLC25A19):c.-128-95G>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262021	NM_001126121.2(SLC25A19):c.-38-79G>T	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255218	NM_001126121.2(SLC25A19):c.774+129T>C	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250263	NM_001126121.2(SLC25A19):c.-129+101C>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247845	NM_001126121.2(SLC25A19):c.460-199A>G	SLC25A19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239864	NM_001126121.2(SLC25A19):c.775-131AATAA[3]	MIF4GD-DT, SLC25A19	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1235477	NM_001126121.2(SLC25A19):c.460-88dup	SLC25A19	Duplication (intron variant)	not provided	GBenign
Select item 1235005	NM_001126121.2(SLC25A19):c.-128-81_-128-80dup	SLC25A19	Duplication (intron variant)	not provided	GBenign
Select item 1230034	NM_001126121.2(SLC25A19):c.289-276_289-275del	SLC25A19	Deletion (intron variant)	not provided	GBenign

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