8604[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 332325	NM_003705.5(SLC25A12):c.*994C>T	SLC25A12	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 3049843	NM_003705.5(SLC25A12):c.*5A>G	SLC25A12	Single nucleotide variant (3 prime UTR variant +1 more)	SLC25A12-related condition	GLikely benign
Select item 559283	NM_003705.5(SLC25A12):c.2033A>T (p.Gln678Leu)	SLC25A12 (Q678L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484475	NM_003705.5(SLC25A12):c.1935_2030del (p.Phe646_Thr677del)	SLC25A12	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1402287	NM_003705.5(SLC25A12):c.2029A>T (p.Thr677Ser)	SLC25A12 (T677S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 452173	NM_003705.5(SLC25A12):c.2020G>C (p.Val674Leu)	SLC25A12 (V674L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 406559	NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)	SLC25A12 (A672fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 951390	NM_003705.5(SLC25A12):c.2009C>T (p.Pro670Leu)	SLC25A12 (P670L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 957870	NM_003705.5(SLC25A12):c.2001G>A (p.Val667=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1607704	NM_003705.5(SLC25A12):c.1998T>C (p.Ala666=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 650484	NM_003705.5(SLC25A12):c.1981A>C (p.Lys661Gln)	SLC25A12 (K661Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496701	NM_003705.5(SLC25A12):c.1979T>A (p.Phe660Tyr)	SLC25A12 (F660Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2806913	NM_003705.5(SLC25A12):c.1977A>G (p.Lys659=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1085104	NM_003705.5(SLC25A12):c.1974G>A (p.Pro658=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1051699	NM_003705.5(SLC25A12):c.1973C>T (p.Pro658Leu)	SLC25A12 (P658L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2693223	NM_003705.5(SLC25A12):c.1969C>T (p.Leu657Phe)	SLC25A12 (L657F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 846959	NM_003705.5(SLC25A12):c.1963C>T (p.Leu655Phe)	SLC25A12 (L655F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1110229	NM_003705.5(SLC25A12):c.1953C>T (p.Asn651=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 841579	NM_003705.5(SLC25A12):c.1948G>A (p.Glu650Lys)	SLC25A12 (E650K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1080187	NM_003705.5(SLC25A12):c.1947C>T (p.Ile649=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 652359	NM_003705.5(SLC25A12):c.1947C>G (p.Ile649Met)	SLC25A12 (I649M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109675	NM_003705.5(SLC25A12):c.1943G>A (p.Gly648Asp)	SLC25A12 (G648D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716375	NM_003705.5(SLC25A12):c.1935G>A (p.Thr645=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1402643	NM_003705.5(SLC25A12):c.1934C>T (p.Thr645Met)	SLC25A12 (T645M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1461004	NM_003705.5(SLC25A12):c.1924G>A (p.Ala642Thr)	SLC25A12 (A642T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1623297	NM_003705.5(SLC25A12):c.1923C>T (p.Leu641=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related condition +1 more	GLikely benign
Select item 1951549	NM_003705.5(SLC25A12):c.1915T>C (p.Tyr639His)	SLC25A12 (Y639H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 332335	NM_003705.5(SLC25A12):c.1909G>A (p.Gly637Ser)	SLC25A12 (G637S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2147968	NM_003705.5(SLC25A12):c.1908C>T (p.Ile636=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3163583	NM_003705.5(SLC25A12):c.1903C>T (p.His635Tyr)	SLC25A12 (H635Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1504335	NM_003705.5(SLC25A12):c.1896C>A (p.Asn632Lys)	SLC25A12 (N632K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1134944	NM_003705.5(SLC25A12):c.1893C>T (p.Ala631=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2192449	NM_003705.5(SLC25A12):c.1871G>A (p.Arg624His)	SLC25A12 (R624H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 754026	NM_003705.5(SLC25A12):c.1869A>G (p.Ser623=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2788612	NM_003705.5(SLC25A12):c.1860A>G (p.Thr620=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2608135	NM_003705.5(SLC25A12):c.1859C>T (p.Thr620Ile)	SLC25A12 (T620I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 840972	NM_003705.5(SLC25A12):c.1855C>G (p.Pro619Ala)	SLC25A12 (P619A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776350	NM_003705.5(SLC25A12):c.1848_1849insG (p.Ser617fs)	SLC25A12 (S617fs)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2776351	NM_003705.5(SLC25A12):c.1848T>G (p.Gly616=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 646243	NM_003705.5(SLC25A12):c.1843G>A (p.Ala615Thr)	SLC25A12 (A615T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903221	NM_003705.5(SLC25A12):c.1842C>T (p.Pro614=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1986560	NM_003705.5(SLC25A12):c.1836-18C>T	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1092189	NM_003705.5(SLC25A12):c.1835+10C>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1026409	NM_003705.5(SLC25A12):c.1829G>A (p.Gly610Glu)	SLC25A12 (G610E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072878	NM_003705.5(SLC25A12):c.1821T>G (p.Ile607Met)	SLC25A12 (I607M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183191	NM_003705.5(SLC25A12):c.1820T>C (p.Ile607Thr)	SLC25A12 (I607T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 958707	NM_003705.5(SLC25A12):c.1819A>T (p.Ile607Phe)	SLC25A12 (I607F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 844973	NM_003705.5(SLC25A12):c.1811G>T (p.Trp604Leu)	SLC25A12 (W604L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1429161	NM_003705.5(SLC25A12):c.1808G>A (p.Arg603Gln)	SLC25A12 (R603Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 414024	NM_003705.5(SLC25A12):c.1794T>C (p.Tyr598=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	SLC25A12-related condition +1 more	GBenign
Select item 1080498	NM_003705.5(SLC25A12):c.1791T>C (p.Thr597=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1024029	NM_003705.5(SLC25A12):c.1790C>T (p.Thr597Ile)	SLC25A12 (T597I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 643521	NM_003705.5(SLC25A12):c.1785G>A (p.Leu595=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 406563	NM_003705.5(SLC25A12):c.1777G>A (p.Val593Ile)	SLC25A12 (V593I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6148	NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg)	SLC25A12 (Q590R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GPathogenic
Select item 1715536	NM_003705.5(SLC25A12):c.1763C>G (p.Ser588Cys)	SLC25A12 (S588C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 697046	NM_003705.5(SLC25A12):c.1756C>A (p.Arg586=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1476135	NM_003705.5(SLC25A12):c.1754T>C (p.Phe585Ser)	SLC25A12 (F585S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101777	NM_003705.5(SLC25A12):c.1749A>G (p.Arg583=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 796403	NM_003705.5(SLC25A12):c.1749A>C (p.Arg583=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1079529	NM_003705.5(SLC25A12):c.1745-4T>C	SLC25A12	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1084914	NM_003705.5(SLC25A12):c.1745-9_1745-8del	SLC25A12	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1966575	NM_003705.5(SLC25A12):c.1745-14C>T	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795890	NM_003705.5(SLC25A12):c.1744+14G>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123536	NM_003705.5(SLC25A12):c.1744+11G>T	SLC25A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050136	NM_003705.5(SLC25A12):c.1744+5G>A	SLC25A12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1035691	NM_003705.5(SLC25A12):c.1738A>G (p.Thr580Ala)	SLC25A12 (T580A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1156462	NM_003705.5(SLC25A12):c.1737G>A (p.Gly579=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1157886	NM_003705.5(SLC25A12):c.1719C>T (p.Pro573=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1017313	NM_003705.5(SLC25A12):c.1717C>T (p.Pro573Ser)	SLC25A12 (P573S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1521086	NM_003705.5(SLC25A12):c.1716G>T (p.Gly572=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2037916	NM_003705.5(SLC25A12):c.1714G>A (p.Gly572Arg)	SLC25A12 (G572R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 666002	NM_003705.5(SLC25A12):c.1706G>A (p.Arg569Gln)	SLC25A12 (R569Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367223	NM_003705.5(SLC25A12):c.1705C>T (p.Arg569Trp)	SLC25A12 (R569W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1008661	NM_003705.5(SLC25A12):c.1702C>T (p.Leu568Phe)	SLC25A12 (L568F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045307	NM_003705.5(SLC25A12):c.1700T>C (p.Ile567Thr)	SLC25A12 (I567T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1609434	NM_003705.5(SLC25A12):c.1693A>C (p.Arg565=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1102123	NM_003705.5(SLC25A12):c.1692C>T (p.Phe564=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 406561	NM_003705.5(SLC25A12):c.1692C>A (p.Phe564Leu)	SLC25A12 (F564L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 849900	NM_003705.5(SLC25A12):c.1685A>T (p.Asp562Val)	SLC25A12 (D562V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2163383	NM_003705.5(SLC25A12):c.1684G>A (p.Asp562Asn)	SLC25A12 (D562N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 722950	NM_003705.5(SLC25A12):c.1683C>T (p.Ile561=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1002970	NM_003705.5(SLC25A12):c.1681A>G (p.Ile561Val)	SLC25A12 (I561V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516167	NM_003705.5(SLC25A12):c.1679T>A (p.Val560Asp)	SLC25A12 (V560D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 332336	NM_003705.5(SLC25A12):c.1665G>A (p.Thr555=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 546880	NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)	SLC25A12 (A552T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39 +2 more	GConflicting classifications of pathogenicity
Select item 1114741	NM_003705.5(SLC25A12):c.1653C>T (p.Arg551=)	SLC25A12	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2202403	NM_003705.5(SLC25A12):c.1651C>T (p.Arg551Cys)	SLC25A12 (R551C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2822566	NM_003705.5(SLC25A12):c.1645G>A (p.Ala549Thr)	SLC25A12 (A549T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1130077	NM_003705.5(SLC25A12):c.1638G>C (p.Leu546=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1388629	NM_003705.5(SLC25A12):c.1631C>G (p.Thr544Arg)	SLC25A12 (T544R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1414725	NM_003705.5(SLC25A12):c.1624A>G (p.Ile542Val)	SLC25A12 (I542V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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