80856[geneid] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 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 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 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	GPR155, GPR155-DT +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 3057470	NM_030650.3(LNPK):c.1179A>G (p.Gln393=)	LNPK	Single nucleotide variant (synonymous variant +1 more)	LNPK-related condition	GLikely benign
Select item 3025440	NM_030650.3(LNPK):c.1158A>G (p.Ser386=)	LNPK	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2651551	NM_030650.3(LNPK):c.1136T>G (p.Val379Gly)	LNPK (V256G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2433495	NM_030650.3(LNPK):c.1110A>G (p.Ile370Met)	LNPK (I247M +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 1028894	NM_030650.3(LNPK):c.1054+1G>C	LNPK	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic
Select item 2651552	NM_030650.3(LNPK):c.1006C>T (p.Pro336Ser)	LNPK (P213S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2502536	NM_030650.3(LNPK):c.931A>G (p.Arg311Gly)	LNPK (R188G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431477	NM_030650.3(LNPK):c.901dup (p.Cys301fs)	LNPK (C178fs +4 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GLikely pathogenic
Select item 870590	NM_030650.3(LNPK):c.896C>T (p.Ala299Val)	LNPK (A365V +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 3032918	NM_030650.3(LNPK):c.888T>C (p.Phe296=)	LNPK	Single nucleotide variant (synonymous variant +1 more)	LNPK-related condition	GLikely benign
Select item 2502647	NM_030650.3(LNPK):c.855G>A (p.Met285Ile)	LNPK (M162I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628621	NM_030650.3(LNPK):c.806A>G (p.Gln269Arg)	LNPK (Q146R +4 more)	Single nucleotide variant (missense variant +1 more)	LNPK-related condition	GUncertain significance
Select item 2689374	NM_030650.3(LNPK):c.757C>T (p.Arg253Ter)	LNPK (R130* +4 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 559607	NM_030650.3(LNPK):c.751C>T (p.Arg251Ter)	LNPK (R251* +4 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic
Select item 3119475	NM_030650.3(LNPK):c.742A>G (p.Ile248Val)	LNPK (I125V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 559606	NM_030650.3(LNPK):c.726del (p.Pro243fs)	LNPK (P120fs +4 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic
Select item 3037711	NM_030650.3(LNPK):c.707-1347A>G	LNPK	Single nucleotide variant (synonymous variant +1 more)	LNPK-related condition	GBenign
Select item 2651553	NM_030650.3(LNPK):c.707-1356G>A	LNPK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3056562	NM_030650.3(LNPK):c.707-1428dup	LNPK	Duplication (intron variant)	LNPK-related condition	GLikely benign
Select item 2920774	NM_030650.3(LNPK):c.682C>T (p.Pro228Ser)	LNPK (P105S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2820631	NM_030650.3(LNPK):c.623del (p.Pro208fs)	LNPK (P208fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1298842	NM_030650.3(LNPK):c.504G>A (p.Gln168=)	LNPK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2352934	NM_030650.3(LNPK):c.478G>A (p.Ala160Thr)	LNPK (A160T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056923	NM_030650.3(LNPK):c.476C>G (p.Thr159Ser)	LNPK (T159S +3 more)	Single nucleotide variant (missense variant +1 more)	LNPK-related condition	GBenign
Select item 1175966	NM_030650.3(LNPK):c.467C>A (p.Ala156Glu)	LNPK (A156E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651554	NM_030650.3(LNPK):c.452C>T (p.Pro151Leu)	LNPK (P151L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3050183	NM_030650.3(LNPK):c.446G>A (p.Cys149Tyr)	LNPK (C149Y +3 more)	Single nucleotide variant (missense variant +1 more)	LNPK-related condition	GLikely benign
Select item 2412773	NM_030650.3(LNPK):c.402_405del (p.Leu134fs)	LNPK (L11fs +3 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GLikely pathogenic
Select item 1175967	NM_030650.3(LNPK):c.393G>A (p.Thr131=)	LNPK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3033046	NM_030650.3(LNPK):c.366A>G (p.Glu122=)	LNPK	Single nucleotide variant (synonymous variant +2 more)	LNPK-related condition	GLikely benign
Select item 1339220	NM_030650.3(LNPK):c.361G>T (p.Glu121Ter)	LNPK (E121* +2 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GLikely pathogenic
Select item 2689373	NM_030650.3(LNPK):c.317-1_317delinsTT	LNPK	Indel (splice acceptor variant)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 2576049	NM_030650.3(LNPK):c.317-4073T>C	LNPK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3053746	NM_030650.3(LNPK):c.258-7C>T	LNPK	Single nucleotide variant (intron variant)	LNPK-related condition	GLikely benign
Select item 2651555	NM_030650.3(LNPK):c.70-6T>C	LNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3060104	NM_030650.3(LNPK):c.70-10C>G	LNPK	Single nucleotide variant (intron variant)	LNPK-related condition	GBenign
Select item 3051132	NM_030650.3(LNPK):c.-18A>G	LNPK (Q59R)	Single nucleotide variant (missense variant +2 more)	LNPK-related condition	GLikely benign
Select item 785018	NM_030650.3(LNPK):c.-25T>A	LNPK (C57S)	Single nucleotide variant (missense variant +2 more)	LNPK-related condition +1 more	GBenign
Select item 3053717	NM_030650.3(LNPK):c.-89G>A	LNPK	Single nucleotide variant (synonymous variant +1 more)	LNPK-related condition	GLikely benign
Select item 2576159	NM_030650.3(LNPK):c.-98dup	LNPK (G33fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688324	GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1	AGPS, EVX2 +19 more	Copy number loss	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 625773	GRCh37/hg19 2q31.1-31.2(chr2:176794846-178494259)	AGPS, EVX2 +17 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 446338	GRCh37/hg19 2q31.1(chr2:175887486-176989647)x1	ATF2, ATP5MC3 +7 more	Copy number loss	See cases	GPathogenic
Select item 443305	GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1	ATF2, ATP5MC3 +10 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 71