28380[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 162

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2013735	NM_178526.5(SLC25A42):c.4G>T (p.Gly2Cys)	SLC25A42 (G2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353162	NM_178526.5(SLC25A42):c.26C>T (p.Pro9Leu)	SLC25A42 (P9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200834	NM_178526.5(SLC25A42):c.27G>A (p.Pro9=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070554	NM_178526.5(SLC25A42):c.32G>A (p.Arg11Gln)	SLC25A42 (R11Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1941697	NM_178526.5(SLC25A42):c.48T>C (p.Ala16=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805178	NM_178526.5(SLC25A42):c.63C>G (p.Ser21=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198780	NM_178526.5(SLC25A42):c.65C>T (p.Ser22Leu)	SLC25A42 (S22L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2198742	NM_178526.5(SLC25A42):c.66G>A (p.Ser22=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048384	NM_178526.5(SLC25A42):c.69C>A (p.Ser23=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531224	NM_178526.5(SLC25A42):c.69C>T (p.Ser23=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478242	NM_178526.5(SLC25A42):c.70G>A (p.Val24Ile)	SLC25A42 (V24I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993698	NM_178526.5(SLC25A42):c.72C>T (p.Val24=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900324	NM_178526.5(SLC25A42):c.80A>C (p.Lys27Thr)	SLC25A42 (K27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514179	NM_178526.5(SLC25A42):c.81+4_81+5del	SLC25A42	Deletion (intron variant)	not provided	GUncertain significance
Select item 1499928	NM_178526.5(SLC25A42):c.81+6T>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1606383	NM_178526.5(SLC25A42):c.81+12_81+44dup	SLC25A42	Duplication (intron variant)	not provided	GBenign
Select item 2973607	NM_178526.5(SLC25A42):c.81+12G>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234690	NM_178526.5(SLC25A42):c.81+103T>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1941929	NM_178526.5(SLC25A42):c.82-17C>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905731	NM_178526.5(SLC25A42):c.82-14A>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787968	NM_178526.5(SLC25A42):c.82-12G>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419703	NM_178526.5(SLC25A42):c.82-4G>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1469578	NM_178526.5(SLC25A42):c.83G>A (p.Arg28His)	SLC25A42 (R28H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2054213	NM_178526.5(SLC25A42):c.109C>T (p.Leu37=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698462	NM_178526.5(SLC25A42):c.111G>T (p.Leu37=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387429	NM_178526.5(SLC25A42):c.115_126dup (p.Ser39_Leu42dup)	SLC25A42	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1922847	NM_178526.5(SLC25A42):c.114G>C (p.Leu38=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806519	NM_178526.5(SLC25A42):c.123C>T (p.Ala41=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166482	NM_178526.5(SLC25A42):c.150G>A (p.Ala50=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2147678	NM_178526.5(SLC25A42):c.171C>T (p.Thr57=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970352	NM_178526.5(SLC25A42):c.187+17C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917099	NM_178526.5(SLC25A42):c.187+18C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793627	NM_178526.5(SLC25A42):c.187+20A>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269980	NM_178526.5(SLC25A42):c.188-172A>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277817	NM_178526.5(SLC25A42):c.188-110_188-109insA	SLC25A42	Insertion (intron variant)	not provided	GBenign
Select item 1644533	NM_178526.5(SLC25A42):c.188-17G>C	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073460	NM_178526.5(SLC25A42):c.188-9T>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554179	NM_178526.5(SLC25A42):c.188-7T>C	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662034	NM_178526.5(SLC25A42):c.188-4C>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981493	NM_178526.5(SLC25A42):c.213+18C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990351	NM_178526.5(SLC25A42):c.213+19G>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899782	NM_178526.5(SLC25A42):c.213+19G>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968025	NM_178526.5(SLC25A42):c.214-13C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817628	NM_178526.5(SLC25A42):c.214-12G>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944883	NM_178526.5(SLC25A42):c.214-11C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931450	NM_178526.5(SLC25A42):c.250G>A (p.Glu84Lys)	SLC25A42 (E84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1914383	NM_178526.5(SLC25A42):c.292G>C (p.Val98Leu)	SLC25A42 (V98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898345	NM_178526.5(SLC25A42):c.294G>T (p.Val98=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920194	NM_178526.5(SLC25A42):c.298G>A (p.Val100Met)	SLC25A42 (V100M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598758	NM_178526.5(SLC25A42):c.309C>G (p.Tyr103Ter)	SLC25A42 (Y103*)	Single nucleotide variant (nonsense)	SLC25A42-related mitochondrial encephalomyopathy	GLikely pathogenic
Select item 1533660	NM_178526.5(SLC25A42):c.312C>T (p.Ala104=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196425	NM_178526.5(SLC25A42):c.321G>A (p.Gln107=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163764	NM_178526.5(SLC25A42):c.329C>A (p.Ala110Glu)	SLC25A42 (A110E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1386162	NM_178526.5(SLC25A42):c.329C>T (p.Ala110Val)	SLC25A42 (A110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807205	NM_178526.5(SLC25A42):c.339G>A (p.Glu113=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008268	NM_178526.5(SLC25A42):c.339_340delinsAA (p.Tyr114Asn)	SLC25A42 (Y114N)	Indel (missense variant)	not provided	GUncertain significance
Select item 2139086	NM_178526.5(SLC25A42):c.346C>A (p.Arg116Ser)	SLC25A42 (R116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428410	NM_178526.5(SLC25A42):c.358A>C (p.Ser120Arg)	SLC25A42 (S120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067756	NM_178526.5(SLC25A42):c.369C>T (p.Gly123=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627557	NM_178526.5(SLC25A42):c.380+2T>A	SLC25A42	Single nucleotide variant (splice donor variant)	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	GPathogenic
Select item 2026237	NM_178526.5(SLC25A42):c.380+5_380+9dup	SLC25A42	Duplication (intron variant)	not provided	GLikely benign
Select item 1668578	NM_178526.5(SLC25A42):c.380+6GCCCC[3]	SLC25A42	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1540228	NM_178526.5(SLC25A42):c.380+9C>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1514453	NM_178526.5(SLC25A42):c.380+20_380+40dup	SLC25A42	Duplication (intron variant)	not provided	GLikely benign
Select item 2130191	NM_178526.5(SLC25A42):c.380+10C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662930	NM_178526.5(SLC25A42):c.380+11G>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239195	NM_178526.5(SLC25A42):c.380+77T>C	SLC25A42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263906	NM_178526.5(SLC25A42):c.380+192A>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1909085	NM_178526.5(SLC25A42):c.381-14_381-12del	SLC25A42	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3023696	NM_178526.5(SLC25A42):c.381-14C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078948	NM_178526.5(SLC25A42):c.382G>T (p.Ala128Ser)	SLC25A42 (A128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423548	NM_178526.5(SLC25A42):c.383C>A (p.Ala128Asp)	SLC25A42 (A128D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007513	NM_178526.5(SLC25A42):c.384C>G (p.Ala128=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169796	NM_178526.5(SLC25A42):c.384C>A (p.Ala128=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2108502	NM_178526.5(SLC25A42):c.387G>A (p.Leu129=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716401	NM_178526.5(SLC25A42):c.389C>T (p.Pro130Leu)	SLC25A42 (P130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626856	NM_178526.5(SLC25A42):c.391C>G (p.Pro131Ala)	SLC25A42 (P131A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1360536	NM_178526.5(SLC25A42):c.397C>T (p.Pro133Ser)	SLC25A42 (P133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941923	NM_178526.5(SLC25A42):c.409G>A (p.Ala137Thr)	SLC25A42 (A137T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672104	NM_178526.5(SLC25A42):c.411C>T (p.Ala137=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646872	NM_178526.5(SLC25A42):c.426A>G (p.Gly142=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110188	NM_178526.5(SLC25A42):c.442C>G (p.Leu148Val)	SLC25A42 (L148V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571590	NM_178526.5(SLC25A42):c.453C>G (p.Pro151=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040842	NM_178526.5(SLC25A42):c.480C>T (p.Ala160=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906569	NM_178526.5(SLC25A42):c.497+7C>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978688	NM_178526.5(SLC25A42):c.497+16G>C	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939568	NM_178526.5(SLC25A42):c.497+20A>T	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226675	NM_178526.5(SLC25A42):c.498-213C>G	SLC25A42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2827321	NM_178526.5(SLC25A42):c.498-4G>A	SLC25A42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096378	NM_178526.5(SLC25A42):c.504C>T (p.Ser168=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2079155	NM_178526.5(SLC25A42):c.526C>T (p.Arg176Cys)	SLC25A42 (R176C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964304	NM_178526.5(SLC25A42):c.532T>C (p.Ser178Pro)	SLC25A42 (S178P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200733	NM_178526.5(SLC25A42):c.534G>A (p.Ser178=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2211153	NM_178526.5(SLC25A42):c.544G>A (p.Gly182Arg)	SLC25A42 (G182R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921526	NM_178526.5(SLC25A42):c.564T>C (p.His188=)	SLC25A42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901981	NM_178526.5(SLC25A42):c.569T>C (p.Phe190Ser)	SLC25A42 (F190S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2