ClinVar for Gene (Select 337867) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330504	NM_001144072.2(UBAC2):c.520A>G (p.Thr174Ala)	UBAC2 (T139A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330503	NM_001144072.2(UBAC2):c.934C>T (p.Arg312Trp)	UBAC2 (R277W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330502	NM_001144072.2(UBAC2):c.14C>G (p.Thr5Ser)	UBAC2 (T5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330501	NM_001144072.2(UBAC2):c.90C>T (p.Leu30=)	UBAC2 (S72L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3282345	NM_004951.5(GPR183):c.490C>T (p.Leu164Phe)	GPR183, UBAC2 (L164F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282337	NM_001098200.2(GPR18):c.776C>T (p.Thr259Met)	GPR18, UBAC2 (T259M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3185428	NM_001144072.2(UBAC2):c.74C>T (p.Ala25Val)	UBAC2 (A25V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185427	NM_001144072.2(UBAC2):c.639C>A (p.Phe213Leu)	UBAC2 (F178L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185426	NM_001144072.2(UBAC2):c.630G>A (p.Met210Ile)	UBAC2 (M175I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185425	NM_001144072.2(UBAC2):c.134T>C (p.Leu45Pro)	UBAC2 (L45P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185423	NM_001144072.2(UBAC2):c.123T>C (p.Phe41=)	UBAC2 (L83S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3185422	NM_001144072.2(UBAC2):c.1016A>G (p.Asn339Ser)	UBAC2 (N339S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3101654	NM_004951.5(GPR183):c.801T>A (p.His267Gln)	GPR183, UBAC2 (H267Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101653	NM_004951.5(GPR183):c.566A>T (p.Glu189Val)	GPR183, UBAC2 (E189V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101652	NM_004951.5(GPR183):c.295A>T (p.Ile99Phe)	GPR183, UBAC2 (I99F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101650	NM_004951.5(GPR183):c.269A>T (p.Tyr90Phe)	GPR183, UBAC2 (Y90F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101649	NM_004951.5(GPR183):c.202C>T (p.Leu68Phe)	GPR183, UBAC2 (L68F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101648	NM_004951.5(GPR183):c.139G>A (p.Val47Met)	GPR183, UBAC2 (V47M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101647	NM_004951.5(GPR183):c.1045A>G (p.Thr349Ala)	GPR183, UBAC2 (T349A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101639	NM_001098200.2(GPR18):c.903G>A (p.Met301Ile)	GPR18, UBAC2 (M301I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101638	NM_001098200.2(GPR18):c.887G>A (p.Arg296Gln)	GPR18, UBAC2 (R296Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101637	NM_001098200.2(GPR18):c.839G>C (p.Cys280Ser)	GPR18, UBAC2 (C280S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101636	NM_001098200.2(GPR18):c.691A>C (p.Ile231Leu)	GPR18, UBAC2 (I231L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101635	NM_001098200.2(GPR18):c.427G>A (p.Val143Met)	GPR18, UBAC2 (V143M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101634	NM_001098200.2(GPR18):c.331C>T (p.Leu111Phe)	GPR18, UBAC2 (L111F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2618511	NM_004951.5(GPR183):c.52G>A (p.Gly18Arg)	GPR183, UBAC2 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612700	NM_004951.5(GPR183):c.1031G>A (p.Arg344His)	GPR183, UBAC2 (R344H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608277	NM_004951.5(GPR183):c.929T>C (p.Phe310Ser)	GPR183, UBAC2 (F310S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603391	NM_001144072.2(UBAC2):c.91G>A (p.Ala31Thr)	UBAC2 (A31T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603163	NM_001098200.2(GPR18):c.104T>C (p.Ile35Thr)	GPR18, UBAC2 (I35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599361	NM_001098200.2(GPR18):c.947G>T (p.Arg316Leu)	GPR18, UBAC2 (R316L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597489	NM_004951.5(GPR183):c.413G>A (p.Arg138His)	GPR183, UBAC2 (R138H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2549505	NM_001098200.2(GPR18):c.77T>C (p.Leu26Pro)	GPR18, UBAC2 (L26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541785	NM_001098200.2(GPR18):c.988A>C (p.Met330Leu)	GPR18, UBAC2 (M330L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520039	NM_001144072.2(UBAC2):c.467C>T (p.Pro156Leu)	LOC126861826, UBAC2 (P121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517517	NM_001144072.2(UBAC2):c.332T>C (p.Ile111Thr)	UBAC2 (I111T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476417	NM_004951.5(GPR183):c.121G>A (p.Val41Ile)	GPR183, UBAC2 (V41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466699	NM_001098200.2(GPR18):c.649G>A (p.Gly217Ser)	GPR18, UBAC2 (G217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2425688	NC_000013.10:g.(?_99336978)_(102379160_?)del	CLYBL, DOCK9 +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	BIVM, BIVM-ERCC5 +18 more	Duplication	not provided	GUncertain significance
Select item 2406370	NM_004951.5(GPR183):c.16G>A (p.Ala6Thr)	GPR183, UBAC2 (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388807	NM_001144072.2(UBAC2):c.174A>G (p.Ile58Met)	UBAC2 (I58M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364050	NM_004951.5(GPR183):c.751G>A (p.Val251Ile)	GPR183, UBAC2 (V251I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345206	NM_004951.5(GPR183):c.86C>T (p.Thr29Met)	GPR183, UBAC2 (T29M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334597	NM_004951.5(GPR183):c.101T>C (p.Met34Thr)	GPR183, UBAC2 (M34T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331066	NM_001098200.2(GPR18):c.932G>T (p.Arg311Leu)	GPR18, UBAC2 (R311L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325282	NM_001098200.2(GPR18):c.161G>T (p.Arg54Ile)	GPR18, UBAC2 (R54I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323021	NM_001098200.2(GPR18):c.421G>C (p.Ala141Pro)	GPR18, UBAC2 (A141P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321416	NM_001144072.2(UBAC2):c.995A>G (p.Asn332Ser)	UBAC2 (N297S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320763	NM_001144072.2(UBAC2):c.881G>A (p.Arg294Gln)	UBAC2 (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318614	NM_001144072.2(UBAC2):c.716T>C (p.Leu239Pro)	UBAC2 (L239P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315861	NM_004951.5(GPR183):c.1073C>T (p.Ser358Leu)	GPR183, UBAC2 (S358L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299822	NM_001144072.2(UBAC2):c.877G>A (p.Gly293Ser)	UBAC2 (G258S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297274	NM_001098200.2(GPR18):c.628A>G (p.Ile210Val)	GPR18, UBAC2 (I210V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262560	NM_001098200.2(GPR18):c.218T>C (p.Met73Thr)	GPR18, UBAC2 (M73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262559	NM_001098200.2(GPR18):c.216A>G (p.Ile72Met)	GPR18, UBAC2 (I72M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253842	NM_001098200.2(GPR18):c.794A>T (p.Asn265Ile)	GPR18, UBAC2 (N265I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237880	NM_001098200.2(GPR18):c.443T>C (p.Met148Thr)	GPR18, UBAC2 (M148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224529	NM_001144072.2(UBAC2):c.1009G>A (p.Ala337Thr)	UBAC2 (A337T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207441	NM_001098200.2(GPR18):c.656C>T (p.Thr219Met)	GPR18, UBAC2 (T219M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527790	GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)	ABCC4, CLDN10 +18 more	Copy number loss	not specified	GUncertain significance
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1275753	NC_000013.10:g.99162946_101376965del	CLYBL, DOCK9 +11 more	Deletion	Lobar holoprosencephaly	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 830571	NC_000013.11:g.(?_99385979)_(99986648_?)del	CLYBL, TM9SF2 +3 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 770422	NM_001098200.2(GPR18):c.559C>A (p.Leu187Met)	GPR18, UBAC2 (L187M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 739378	NM_001144072.2(UBAC2):c.76C>T (p.Leu26Phe)	UBAC2 (L26F)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign

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