17494[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	ARF1, BTNL10 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 221378	GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1	GJC2, GUK1 +7 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1220198	NC_000001.11:g.228149556G>C	GJC2	Single nucleotide variant	not provided	GLikely benign
Select item 139577	NC_000001.11:g.228149857A>G	GJC2	Single nucleotide variant	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 30759	NC_000001.11:g.228149860A>G	GJC2	Single nucleotide variant	not provided +2 more	GPathogenic/Likely pathogenic
Select item 623303	NM_020435.4(GJC2):c.-20G>C	GJC2	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 2202995	NM_020435.4(GJC2):c.-20+1G>C	GJC2	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GPathogenic
Select item 1205095	NM_020435.4(GJC2):c.-20+68C>T	GJC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327323	NM_020435.4(GJC2):c.-19-193C>G	GJC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1684100	NM_020435.4(GJC2):c.-19-39_-19-23del	GJC2	Deletion (intron variant)	not provided	GLikely benign
Select item 504429	NM_020435.4(GJC2):c.-19-3C>A	GJC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 402901	NM_020435.4(GJC2):c.-14G>C	GJC2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1175616	NM_020435.4(GJC2):c.-10G>C	GJC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 402902	NM_020435.4(GJC2):c.-6G>C	GJC2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1504081	NM_020435.4(GJC2):c.11T>G (p.Met4Arg)	GJC2 (M4R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 235629	NM_020435.4(GJC2):c.17G>A (p.Trp6Ter)	GJC2 (W6*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 817577	NM_020435.4(GJC2):c.23_24delinsAA (p.Phe8Ter)	GJC2 (F8*)	Indel (nonsense)	not provided	GPathogenic
Select item 1609156	NM_020435.4(GJC2):c.27G>C (p.Leu9=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2195075	NM_020435.4(GJC2):c.29C>T (p.Thr10Met)	GJC2 (T10M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2417910	NM_020435.4(GJC2):c.30_31delinsAA (p.Thr10_Arg11=)	GJC2	Indel (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2671654	NM_020435.4(GJC2):c.32G>C (p.Arg11Pro)	GJC2 (R11P)	Single nucleotide variant (missense variant)	Lymphatic malformation 3	GUncertain significance
Select item 2200059	NM_020435.4(GJC2):c.32G>A (p.Arg11Gln)	GJC2 (R11Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1441312	NM_020435.4(GJC2):c.35T>C (p.Leu12Pro)	GJC2 (L12P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1110934	NM_020435.4(GJC2):c.42G>A (p.Glu14=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 983451	NM_020435.4(GJC2):c.49dup (p.His17fs)	GJC2 (H17fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 2910764	NM_020435.4(GJC2):c.51C>T (p.His17=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 982030	NM_020435.4(GJC2):c.62C>T (p.Thr21Ile)	GJC2 (T21I)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 2726006	NM_020435.4(GJC2):c.69_82dup (p.Leu28fs)	GJC2 (L28fs)	Duplication (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 266108	NM_020435.4(GJC2):c.78del (p.Trp27fs)	GJC2 (W27fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 520879	NM_020435.4(GJC2):c.80G>A (p.Trp27Ter)	GJC2 (W27*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 571339	NM_020435.4(GJC2):c.85_86dup (p.Val30fs)	GJC2 (V30fs)	Duplication (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 520880	NM_020435.4(GJC2):c.83T>C (p.Leu28Pro)	GJC2 (L28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2057935	NM_020435.4(GJC2):c.84C>T (p.Leu28=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1564531	NM_020435.4(GJC2):c.84C>A (p.Leu28=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3099995	NM_020435.4(GJC2):c.86C>T (p.Thr29Met)	GJC2 (T29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 643794	NM_020435.4(GJC2):c.87G>A (p.Thr29=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 1364655	NM_020435.4(GJC2):c.96G>A (p.Val32=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3336783	NM_020435.4(GJC2):c.99del (p.Phe34fs)	GJC2 (F34fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1350447	NM_020435.4(GJC2):c.102C>A (p.Phe34Leu)	GJC2 (F34L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3061968	NM_020435.4(GJC2):c.104G>A (p.Arg35His)	GJC2 (R35H)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 625200	NM_020435.4(GJC2):c.107del (p.Ile36fs)	GJC2 (I36fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 235758	NM_020435.4(GJC2):c.108C>T (p.Ile36=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +6 more	GBenign/Likely benign
Select item 2078	NM_020435.4(GJC2):c.108C>G (p.Ile36Met)	GJC2 (I36M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 44	GPathogenic
Select item 1430617	NM_020435.4(GJC2):c.109G>A (p.Val37Met)	GJC2 (V37M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1572462	NM_020435.4(GJC2):c.117G>C (p.Thr39=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 872977	NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)	GJC2 (A40P)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 2754492	NM_020435.4(GJC2):c.126C>T (p.Gly42=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1438452	NM_020435.4(GJC2):c.127G>A (p.Gly43Ser)	GJC2 (G43S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2074005	NM_020435.4(GJC2):c.133G>C (p.Ala45Pro)	GJC2 (A45P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2261981	NM_020435.4(GJC2):c.139T>C (p.Tyr47His)	GJC2 (Y47H)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 527995	NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter)	GJC2 (Y47*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GLikely pathogenic
Select item 2079	NM_020435.4(GJC2):c.143C>T (p.Ser48Leu)	GJC2 (S48L)	Single nucleotide variant (missense variant)	Lymphatic malformation 3	GPathogenic
Select item 261256	NM_020435.4(GJC2):c.147C>T (p.Asp49=)	GJC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1697235	NM_020435.4(GJC2):c.148G>A (p.Glu50Lys)	GJC2 (E50K)	Single nucleotide variant (missense variant)	Lymphatic malformation 3	GUncertain significance
Select item 872625	NM_020435.4(GJC2):c.148G>T (p.Glu50Ter)	GJC2 (E50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1344347	NM_020435.4(GJC2):c.174G>T (p.Thr58=)	GJC2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 3099991	NM_020435.4(GJC2):c.175C>T (p.Arg59Trp)	GJC2 (R59W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2739345	NM_020435.4(GJC2):c.175C>A (p.Arg59=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3281467	NM_020435.4(GJC2):c.176G>C (p.Arg59Pro)	GJC2 (R59P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2732624	NM_020435.4(GJC2):c.177G>T (p.Arg59=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3251968	NM_020435.4(GJC2):c.184G>C (p.Gly62Arg)	GJC2 (G62R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +1 more	GUncertain significance
Select item 2480771	NM_020435.4(GJC2):c.190G>A (p.Asp64Asn)	GJC2 (D64N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 634512	NM_020435.4(GJC2):c.193_195del (p.Asn65del)	GJC2 (N65del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 3336780	NM_020435.4(GJC2):c.196_201del (p.Val66_Cys67del)	GJC2	Deletion (inframe_deletion)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1717500	NM_020435.4(GJC2):c.195C>A (p.Asn65Lys)	GJC2 (N65K)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1472061	NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys)	GJC2 (Y68C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 698306	NM_020435.4(GJC2):c.216G>T (p.Ala72=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1027507	NM_020435.4(GJC2):c.219_220del (p.Leu74fs)	GJC2 (L74fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 801628	NM_020435.4(GJC2):c.217C>A (p.Pro73Thr)	GJC2 (P73T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1302701	NM_020435.4(GJC2):c.220C>G (p.Leu74Val)	GJC2 (L74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101617	NM_020435.4(GJC2):c.224C>A (p.Ser75Ter)	GJC2 (S75*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 1715561	NM_020435.4(GJC2):c.226C>A (p.His76Asn)	GJC2 (H76N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2255075	NM_020435.4(GJC2):c.229G>A (p.Val77Met)	GJC2 (V77M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2020869	NM_020435.4(GJC2):c.231_233del (p.Arg78del)	GJC2 (R78del)	Deletion (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 2725183	NM_020435.4(GJC2):c.251T>C (p.Ile84Thr)	GJC2 (I84T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1027508	NM_020435.4(GJC2):c.254T>C (p.Val85Ala)	GJC2 (V85A)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1306637	NM_020435.4(GJC2):c.259A>C (p.Ile87Leu)	GJC2 (I87L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072	NM_020435.4(GJC2):c.268C>T (p.Pro90Ser)	GJC2 (P90S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3338029	NM_020435.4(GJC2):c.282C>G (p.Tyr94Ter)	GJC2 (Y94*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 1949530	NM_020435.4(GJC2):c.282C>T (p.Tyr94=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1166478	NM_020435.4(GJC2):c.285G>A (p.Leu95=)	GJC2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1569235	NM_020435.4(GJC2):c.291C>T (p.Tyr97=)	GJC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2136900	NM_020435.4(GJC2):c.292G>A (p.Ala98Thr)	GJC2 (A98T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1705684	NM_020435.4(GJC2):c.293C>A (p.Ala98Asp)	GJC2 (A98D)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 1409692	NM_020435.4(GJC2):c.295G>A (p.Val99Met)	GJC2 (V99M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance

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