13345[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153652	GRCh38/hg38 2p25.1(chr2:11270488-11924312)x3	E2F6, GREB1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 152514	GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3	GREB1, LOC100506405 +14 more	Copy number gain	See cases	GLikely benign
Select item 684288	NM_145693.2(LPIN1):c.-69445T>G	LPIN1	Single nucleotide variant	not provided	GBenign
Select item 671156	NM_145693.2(LPIN1):c.-69443G>A	LPIN1	Single nucleotide variant	not provided	GBenign
Select item 1204350	NC_000002.12:g.11677348C>A	LPIN1	Single nucleotide variant	not provided	GLikely benign
Select item 667618	NM_145693.2(LPIN1):c.-69102G>A	LPIN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3034250	NM_001261428.3(LPIN1):c.22C>T (p.Arg8Cys)	LPIN1 (R8C)	Single nucleotide variant (missense variant)	LPIN1-related disorder	GLikely benign
Select item 403044	NC_000002.12:g.11677686G>C	LPIN1 (E13D)	Single nucleotide variant (missense variant)	Myoglobinuria, acute recurrent, autosomal recessive +2 more	GBenign
Select item 1179725	NM_001261428.3(LPIN1):c.45G>A (p.Ser15=)	LPIN1	Single nucleotide variant (synonymous variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GLikely benign
Select item 3067903	NM_001261428.3(LPIN1):c.81+5G>T	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 1195378	NM_001261428.3(LPIN1):c.81+129G>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293184	NM_001261428.3(LPIN1):c.81+165G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211392	NM_001261428.3(LPIN1):c.81+171T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200599	NM_001261428.3(LPIN1):c.81+198G>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290682	NM_001261428.3(LPIN1):c.81+275G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247440	NM_001261428.3(LPIN1):c.82-299G>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226194	NM_001261428.3(LPIN1):c.82-297C>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205038	NM_001261428.3(LPIN1):c.82-285A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201944	NM_001261428.3(LPIN1):c.82-154dup	LPIN1	Duplication (intron variant)	not provided	GLikely benign
Select item 670680	NM_145693.2(LPIN1):c.-33085T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670679	NM_145693.2(LPIN1):c.-33052G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683083	NM_145693.2(LPIN1):c.-33033T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193983	NM_001261428.3(LPIN1):c.82-39C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403045	NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln)	LPIN1 (R38Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1270822	NM_001261428.3(LPIN1):c.138+25C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683087	NM_001261428.3(LPIN1):c.138+26G>A	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GBenign
Select item 683084	NM_145693.2(LPIN1):c.-32819A>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670695	NM_145693.2(LPIN1):c.-32795G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683085	NM_145693.2(LPIN1):c.-32708T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684294	NM_145693.2(LPIN1):c.-5609A>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177835	NM_001261427.3(LPIN1):c.-71-55C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684298	NM_145693.2(LPIN1):c.-4998T>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211651	NM_001261427.3(LPIN1):c.9+291G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 330897	NM_145693.3(LPIN1):c.-75T>G	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	Acute Recurrent Myoglobinuria	GUncertain significance
Select item 330898	NM_145693.3(LPIN1):c.-69G>A	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	Acute Recurrent Myoglobinuria	GUncertain significance
Select item 894057	NM_001349206.2(LPIN1):c.-35A>G	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894058	NM_001349206.2(LPIN1):c.-26A>C	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330899	NM_001349206.2(LPIN1):c.-26A>G	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894059	NM_001349206.2(LPIN1):c.-15C>A	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330900	NM_001349206.2(LPIN1):c.-11C>T	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 452931	NM_001349206.2(LPIN1):c.-10+4A>G	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1213524	NM_001349206.2(LPIN1):c.-9-269G>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189058	NM_001349206.2(LPIN1):c.-9-192C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679644	NM_001349206.2(LPIN1):c.-9-161C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245028	NM_001349206.2(LPIN1):c.-9-14del	LPIN1	Deletion (intron variant)	not provided	GBenign
Select item 1291316	NM_001349206.2(LPIN1):c.-9-21T>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3036641	NM_001349206.2(LPIN1):c.-9-9G>T	LPIN1	Single nucleotide variant (intron variant)	LPIN1-related disorder	GLikely benign
Select item 2722212	NM_001349206.2(LPIN1):c.9C>T (p.Tyr3=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2197083	NM_001349206.2(LPIN1):c.10G>A (p.Val4Met)	LPIN1 (V34M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 894458	NM_001349206.2(LPIN1):c.24C>T (p.Ala8=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2794353	NM_001349206.2(LPIN1):c.42C>A (p.Thr14=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 894459	NM_001349206.2(LPIN1):c.42C>T (p.Thr14=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2086052	NM_001349206.2(LPIN1):c.43G>A (p.Val15Met)	LPIN1 (V64M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943883	NM_001349206.2(LPIN1):c.48G>A (p.Lys16=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 330901	NM_001349206.2(LPIN1):c.72C>T (p.Pro24=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3119762	NM_001349206.2(LPIN1):c.73G>C (p.Ala25Pro)	LPIN1 (A25P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1345359	NM_001349206.2(LPIN1):c.73G>A (p.Ala25Thr)	LPIN1 (A31T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2857438	NM_001349206.2(LPIN1):c.78_79del (p.Ser28fs)	LPIN1 (S77fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2319594	NM_001349206.2(LPIN1):c.91A>T (p.Ile31Phe)	LPIN1 (I31F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3291173	NM_001349206.2(LPIN1):c.109C>T (p.Arg37Cys)	LPIN1 (R37C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1421386	NM_001349206.2(LPIN1):c.110G>C (p.Arg37Pro)	LPIN1 (R67P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 330902	NM_001349206.2(LPIN1):c.110G>A (p.Arg37His)	LPIN1 (R37H +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 330903	NM_001349206.2(LPIN1):c.119A>G (p.Asn40Ser)	LPIN1 (N40S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 330904	NM_001349206.2(LPIN1):c.124A>G (p.Asn42Asp)	LPIN1 (N42D +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330905	NM_001349206.2(LPIN1):c.138C>G (p.Ser46=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2154088	NM_001349206.2(LPIN1):c.148G>A (p.Val50Ile)	LPIN1 (V50I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066758	NM_001349206.2(LPIN1):c.151C>T (p.Arg51Cys)	LPIN1 (R51C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 894460	NM_001349206.2(LPIN1):c.152G>A (p.Arg51His)	LPIN1 (R57H +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 2052974	NM_001349206.2(LPIN1):c.176G>A (p.Arg59His)	LPIN1 (R65H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1205474	NM_001349206.2(LPIN1):c.181C>T (p.Arg61Ter)	LPIN1 (R110* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2310889	NM_001349206.2(LPIN1):c.182G>A (p.Arg61Gln)	LPIN1 (R91Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 96495	NM_001349206.2(LPIN1):c.192+17C>T	LPIN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1960758	NM_001349206.2(LPIN1):c.192+18G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2199135	NM_001349206.2(LPIN1):c.192+19G>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211742	NM_001349206.2(LPIN1):c.192+147T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244114	NM_001349206.2(LPIN1):c.192+171C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292194	NM_001349206.2(LPIN1):c.192+190G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683117	NM_001349206.2(LPIN1):c.192+197A>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186989	NM_001349206.2(LPIN1):c.193-97C>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262589	NM_001349206.2(LPIN1):c.193-47C>T	LPIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262588	NM_001349206.2(LPIN1):c.193-43G>T	LPIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2751981	NM_001349206.2(LPIN1):c.193-2A>G	LPIN1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1950576	NM_001349206.2(LPIN1):c.199A>G (p.Ile67Val)	LPIN1 (I116V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1360705	NM_001349206.2(LPIN1):c.245A>G (p.Asp82Gly)	LPIN1 (D131G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2089945	NM_001349206.2(LPIN1):c.264dup (p.Val89fs)	LPIN1 (V95fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1948237	NM_001349206.2(LPIN1):c.265G>C (p.Val89Leu)	LPIN1 (V95L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180913	NM_001349206.2(LPIN1):c.288+9G>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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