ClinVar for Gene (Select 30000) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3233546	NM_001382241.1(TNPO2):c.681C>G (p.Pro227=)	TNPO2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3233464	NM_001382241.1(TNPO2):c.2512-7G>A	LOC126862859, TNPO2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3180550	NM_001382241.1(TNPO2):c.839C>T (p.Thr280Met)	TNPO2 (T280M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3180549	NM_001382241.1(TNPO2):c.2654C>T (p.Pro885Leu)	LOC126862859, TNPO2 (P875L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3180548	NM_001382241.1(TNPO2):c.230A>G (p.His77Arg)	TNPO2 (H77R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3180547	NM_001382241.1(TNPO2):c.1985G>A (p.Arg662His)	TNPO2 (R662H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067999	NM_001382241.1(TNPO2):c.1452A>T (p.Lys484Asn)	TNPO2 (K484N)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GUncertain significance
Select item 3065643	NM_001382241.1(TNPO2):c.1929_1930insA (p.Leu644fs)	TNPO2 (L644fs)	Insertion (frameshift variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GLikely pathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 3062141	NM_001382241.1(TNPO2):c.2342C>T (p.Thr781Ile)	LOC126862859, TNPO2 (T769I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3045082	NM_001382241.1(TNPO2):c.2110+4C>T	TNPO2	Single nucleotide variant (intron variant)	TNPO2-related disorder	GLikely benign
Select item 3025393	NM_001382241.1(TNPO2):c.1620C>T (p.Asp540=)	TNPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025231	NM_001382241.1(TNPO2):c.1974G>C (p.Gln658His)	TNPO2 (Q658H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024520	NM_001382241.1(TNPO2):c.890+1G>T	TNPO2	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GLikely pathogenic
Select item 2812685	NM_001382241.1(TNPO2):c.771+7_771+14delinsG	TNPO2	Indel (intron variant)	not provided	GBenign
Select item 2691004	NM_001382241.1(TNPO2):c.826G>A (p.Glu276Lys)	TNPO2 (E276K)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GLikely pathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2649345	NM_001382241.1(TNPO2):c.1441G>C (p.Glu481Gln)	TNPO2 (E481Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637089	NM_001382241.1(TNPO2):c.1068G>C (p.Glu356Asp)	TNPO2 (E356D)	Single nucleotide variant (missense variant +1 more)	TNPO2-related disorder	GUncertain significance
Select item 2635269	NM_001382241.1(TNPO2):c.1541C>T (p.Pro514Leu)	TNPO2 (P514L)	Single nucleotide variant (missense variant +1 more)	TNPO2-related disorder	GLikely pathogenic
Select item 2633666	NM_001382241.1(TNPO2):c.1106A>G (p.Asp369Gly)	TNPO2 (D369G)	Single nucleotide variant (missense variant +1 more)	TNPO2-related disorder	GUncertain significance
Select item 2609727	NM_001382241.1(TNPO2):c.1552T>C (p.Tyr518His)	TNPO2 (Y518H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602032	NM_001382241.1(TNPO2):c.2575A>C (p.Met859Leu)	LOC126862859, TNPO2 (M859L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2576135	NM_001382241.1(TNPO2):c.648+3G>A	TNPO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2574960	NM_001382241.1(TNPO2):c.245del (p.Pro82fs)	TNPO2 (P82fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2571031	NM_001382241.1(TNPO2):c.2412-1_2412delinsCT	LOC126862859, TNPO2	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 2504965	NM_001382241.1(TNPO2):c.169dup (p.Ser57fs)	TNPO2 (S57fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2503974	NM_001382241.1(TNPO2):c.648+7C>T	TNPO2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2487064	NM_001382241.1(TNPO2):c.1288G>C (p.Val430Leu)	TNPO2 (V430L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2375534	NM_001382241.1(TNPO2):c.493G>A (p.Ala165Thr)	TNPO2 (A165T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369435	NM_001382241.1(TNPO2):c.2309G>A (p.Arg770His)	LOC126862859, TNPO2 (R770H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2346387	NM_001382241.1(TNPO2):c.1276A>G (p.Met426Val)	TNPO2 (M426V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311997	NM_001382241.1(TNPO2):c.2677G>A (p.Ala893Thr)	LOC126862859, TNPO2 (A893T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297239	NM_001382241.1(TNPO2):c.1669-3C>T	TNPO2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2251810	NM_001382241.1(TNPO2):c.1070A>G (p.Asp357Gly)	TNPO2 (D357G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227465	NM_001382241.1(TNPO2):c.175+5G>A	TNPO2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2225477	NM_001382241.1(TNPO2):c.466G>T (p.Asp156Tyr)	TNPO2 (D156Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2218231	NM_001382241.1(TNPO2):c.1861A>C (p.Met621Leu)	TNPO2 (M621L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210547	NM_001382241.1(TNPO2):c.107A>G (p.Lys36Arg)	TNPO2 (K36R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1912888	NM_001382241.1(TNPO2):c.1094A>C (p.Asp365Ala)	TNPO2 (D365A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1709657	NM_001382241.1(TNPO2):c.2059C>A (p.Leu687Ile)	TNPO2 (L687I)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies +1 more	GUncertain significance
Select item 1704960	NM_001382241.1(TNPO2):c.1937G>A (p.Ser646Asn)	TNPO2 (S646N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690646	NM_001382241.1(TNPO2):c.1643C>T (p.Ser548Phe)	TNPO2 (S548F)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GLikely pathogenic
Select item 1679123	NM_001382241.1(TNPO2):c.2059C>T (p.Leu687Phe)	TNPO2 (L687F)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	CALR, DAND5 +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 1333687	NM_001382241.1(TNPO2):c.1543T>C (p.Tyr515His)	TNPO2 (Y515H)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GUncertain significance
Select item 1333639	NM_001382241.1(TNPO2):c.2110+1G>C	TNPO2	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GLikely pathogenic
Select item 1333482	NM_001382241.1(TNPO2):c.1540C>T (p.Pro514Ser)	TNPO2 (P514S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GUncertain significance
Select item 1321960	NM_001382241.1(TNPO2):c.1471_1474delinsCAAT (p.Lys491_Arg492delinsGlnTrp)	TNPO2	Indel (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1314789	NM_001382241.1(TNPO2):c.1913T>G (p.Met638Arg)	TNPO2 (M638R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312420	NM_001382241.1(TNPO2):c.1906G>C (p.Asp636His)	TNPO2 (D636H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308660	NM_001382241.1(TNPO2):c.2048G>C (p.Ser683Thr)	TNPO2 (S683T)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GLikely pathogenic
Select item 1307430	NM_001382241.1(TNPO2):c.1794C>A (p.Phe598Leu)	TNPO2 (F598L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299683	NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg)	TNPO2 (Q28R)	Single nucleotide variant (missense variant +1 more)	TNPO2-related disorder	GUncertain significance
Select item 1299682	NM_001382241.1(TNPO2):c.1637C>T (p.Ala546Val)	TNPO2 (A546V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GPathogenic
Select item 1299681	NM_001382241.1(TNPO2):c.1110G>C (p.Trp370Cys)	TNPO2 (W370C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GPathogenic
Select item 1299680	NM_001382241.1(TNPO2):c.1108T>C (p.Trp370Arg)	TNPO2 (W370R)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GPathogenic
Select item 1299679	NM_001382241.1(TNPO2):c.466G>A (p.Asp156Asn)	TNPO2 (D156N)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 871678	NM_001382241.1(TNPO2):c.1580T>G (p.Phe527Cys)	TNPO2 (F527C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871677	NM_001382241.1(TNPO2):c.1618G>A (p.Asp540Asn)	TNPO2 (D540N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 790752	NM_001382241.1(TNPO2):c.567-5G>A	TNPO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790751	NM_001382241.1(TNPO2):c.1032A>G (p.Thr344=)	TNPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778810	NM_001382241.1(TNPO2):c.771+7_771+9del	TNPO2	Deletion (intron variant)	not provided	GBenign
Select item 777899	NM_001382241.1(TNPO2):c.2592C>T (p.Leu864=)	LOC126862859, TNPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775408	NM_001382241.1(TNPO2):c.2094T>C (p.His698=)	TNPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723854	NM_001382241.1(TNPO2):c.585C>T (p.Cys195=)	TNPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712233	NM_001382241.1(TNPO2):c.2315C>T (p.Thr772Met)	LOC126862859, TNPO2 (T772M)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
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 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 90