200894[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155713	GRCh38/hg38 3q11.1-11.2(chr3:93800620-94792824)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 148990	GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 144282	GRCh38/hg38 3q11.1-11.2(chr3:93856441-94708419)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154553	GRCh38/hg38 3q11.1-11.2(chr3:93856445-94026979)x3	ARL13B, LOC123002313 +4 more	Copy number gain	See cases	GUncertain significance
Select item 150280	GRCh38/hg38 3q11.1-11.2(chr3:93856445-94039745)x3	ARL13B, LOC123002313 +4 more	Copy number gain	See cases	GLikely benign
Select item 472995	NC_000003.12:g.(?_93874239)_(94053268_?)del	ARL13B, LOC123002313 +4 more	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1208986	NC_000003.12:g.93979913T>A	ARL13B, LOC129937098	Single nucleotide variant	not provided	GLikely benign
Select item 1695461	NC_000003.12:g.93980092G>T	ARL13B	Single nucleotide variant	not provided	GLikely benign
Select item 346901	NM_001174150.2(ARL13B):c.-263C>T	ARL13B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1236808	NM_001174150.2(ARL13B):c.-234G>T	ARL13B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 346906	NM_001174150.2(ARL13B):c.-50C>A	ARL13B	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1139931	NM_001174150.2(ARL13B):c.5T>G (p.Phe2Cys)	ARL13B (F2C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1602033	NM_001174150.2(ARL13B):c.6C>T (p.Phe2=)	ARL13B	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 8	GLikely benign
Select item 748604	NM_001174150.2(ARL13B):c.12G>C (p.Leu4=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8	GLikely benign
Select item 546197	NM_001174150.2(ARL13B):c.13A>T (p.Met5Leu)	ARL13B (M5L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2166046	NM_001174150.2(ARL13B):c.18C>T (p.Ala6=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8	GLikely benign
Select item 1351892	NM_001174150.2(ARL13B):c.20G>A (p.Ser7Asn)	ARL13B (S7N)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 856485	NM_001174150.2(ARL13B):c.22T>G (p.Cys8Gly)	ARL13B (C8G)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 346908	NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 1413703	NM_001174150.2(ARL13B):c.41G>A (p.Arg14Gln)	ARL13B (R14Q)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 3129526	NM_001174150.2(ARL13B):c.55G>A (p.Val19Ile)	ARL13B (V19I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1614479	NM_001174150.2(ARL13B):c.57C>A (p.Val19=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8	GLikely benign
Select item 2445749	NM_001174150.2(ARL13B):c.59+1G>A	ARL13B	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 696084	NM_001174150.2(ARL13B):c.59+8G>A	ARL13B	Single nucleotide variant (intron variant)	ARL13B-related disorder +1 more	GLikely benign
Select item 2963040	NM_001174150.2(ARL13B):c.59+14del	ARL13B	Deletion (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1633699	NM_001174150.2(ARL13B):c.59+14A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2094888	NM_001174150.2(ARL13B):c.59+15G>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1947220	NM_001174150.2(ARL13B):c.59+16C>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GUncertain significance
Select item 1668051	NM_001174150.2(ARL13B):c.59+18G>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2163309	NM_001174150.2(ARL13B):c.59+20C>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1901752	NM_001174150.2(ARL13B):c.59+20C>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GBenign
Select item 1238311	NM_001174150.2(ARL13B):c.59+245GT[18]	ARL13B	Microsatellite (intron variant)	not provided	GBenign
Select item 1194419	NM_001174150.2(ARL13B):c.59+245GT[19]	ARL13B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1260659	NM_001174150.2(ARL13B):c.59+245GT[16]	ARL13B	Microsatellite (intron variant)	not provided	GBenign
Select item 1244366	NM_001174150.2(ARL13B):c.59+245GT[15]	ARL13B	Microsatellite (intron variant)	not provided	GBenign
Select item 1211818	NM_001174150.2(ARL13B):c.59+245GT[14]	ARL13B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1586058	NM_001174150.2(ARL13B):c.60-20T>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2856973	NM_001174150.2(ARL13B):c.60-19A>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2146692	NM_001174150.2(ARL13B):c.60-18A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 1034614	NM_001174150.2(ARL13B):c.60A>G (p.Arg20=)	ARL13B	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 8	GLikely benign
Select item 954650	NM_001174150.2(ARL13B):c.64G>A (p.Val22Met)	ARL13B (V22M)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 217551	NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)	ARL13B (V22G)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GPathogenic
Select item 1912230	NM_001174150.2(ARL13B):c.70C>T (p.Leu24Phe)	ARL13B (L24F)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 2736786	NM_001174150.2(ARL13B):c.73_74del (p.Leu25fs)	ARL13B (L25fs)	Deletion (frameshift variant +3 more)	Joubert syndrome 8	GPathogenic
Select item 2042528	NM_001174150.2(ARL13B):c.76A>G (p.Met26Val)	ARL13B (M26V)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 2321478	NM_001174150.2(ARL13B):c.79G>A (p.Val27Met)	ARL13B (V27M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2823355	NM_001174150.2(ARL13B):c.87T>G (p.Leu29=)	ARL13B	Single nucleotide variant (intron variant +3 more)	Joubert syndrome 8	GLikely benign
Select item 3235123	NM_001174150.2(ARL13B):c.89A>G (p.Asp30Gly)	ARL13B (D30G)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 2492184	NM_001174150.2(ARL13B):c.94G>A (p.Ala32Thr)	ARL13B (A32T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 128453	NM_001174150.2(ARL13B):c.105C>T (p.Thr35=)	ARL13B	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 8 +1 more	GBenign/Likely benign
Select item 419776	NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr)	ARL13B (A36T)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2957313	NM_001174150.2(ARL13B):c.108A>G (p.Ala36=)	ARL13B	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 8	GLikely benign
Select item 698389	NM_001174150.2(ARL13B):c.120A>G (p.Gly40=)	ARL13B	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 8 +1 more	GLikely benign
Select item 1945355	NM_001174150.2(ARL13B):c.127G>C (p.Gly43Arg)	ARL13B (G43R)	Single nucleotide variant (5 prime UTR variant +3 more)	Joubert syndrome 8	GUncertain significance
Select item 2119033	NM_001174150.2(ARL13B):c.130+7T>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 391313	NM_001174150.2(ARL13B):c.130+7T>C	ARL13B	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2745353	NM_001174150.2(ARL13B):c.130+8G>A	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 677637	NM_001174150.2(ARL13B):c.130+242T>C	ARL13B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3044634	NM_001174150.2(ARL13B):c.130+726G>A	ARL13B (R24H)	Single nucleotide variant (missense variant +1 more)	ARL13B-related disorder	GBenign
Select item 673522	NM_001174150.2(ARL13B):c.131-295A>G	ARL13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1551406	NM_001174150.2(ARL13B):c.131-11A>G	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 2753191	NM_001174150.2(ARL13B):c.131-9T>C	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 285657	NM_001174150.2(ARL13B):c.131-1G>T	ARL13B	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1062013	NM_001174150.2(ARL13B):c.154A>G (p.Thr52Ala)	ARL13B (T37A +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1505022	NM_001174150.2(ARL13B):c.169A>G (p.Lys57Glu)	ARL13B (K57E +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1385872	NM_001174150.2(ARL13B):c.174_191dup (p.Gly63_Lys64insAsnAsnLeuArgGlnGly)	ARL13B	Duplication (inframe_insertion +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1497108	NM_001174150.2(ARL13B):c.190_192del (p.Lys64del)	ARL13B (K49del +1 more)	Deletion (5 prime UTR variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1523161	NM_001174150.2(ARL13B):c.195T>G (p.Phe65Leu)	ARL13B (F50L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2111689	NM_001174150.2(ARL13B):c.200T>G (p.Val67Gly)	ARL13B (V52G +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1037637	NM_001174150.2(ARL13B):c.202A>C (p.Thr68Pro)	ARL13B (T68P +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1439511	NM_001174150.2(ARL13B):c.205A>G (p.Ile69Val)	ARL13B (I54V +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2096896	NM_001174150.2(ARL13B):c.206T>A (p.Ile69Asn)	ARL13B (I69N +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1001546	NM_001174150.2(ARL13B):c.211G>A (p.Asp71Asn)	ARL13B (D56N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1470156	NM_001174150.2(ARL13B):c.214T>G (p.Leu72Val)	ARL13B (L57V +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1023700	NM_001174150.2(ARL13B):c.221G>A (p.Gly74Asp)	ARL13B (G59D +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2203408	NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)	ARL13B (G60R +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GPathogenic
Select item 853231	NM_001174150.2(ARL13B):c.233T>C (p.Ile78Thr)	ARL13B (I78T +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1991	NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)	ARL13B (R79Q +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GPathogenic
Select item 1897613	NM_001174150.2(ARL13B):c.238G>A (p.Gly80Arg)	ARL13B (G65R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1723383	NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)	ARL13B	Deletion (nonsense +3 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1992	NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)	ARL13B (W82* +1 more)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 8	GPathogenic
Select item 218107	NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys)	ARL13B (Y86C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1966857	NM_001174150.2(ARL13B):c.269A>G (p.Tyr90Cys)	ARL13B (Y90C +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2288477	NM_001174150.2(ARL13B):c.274dup (p.Val92fs)	ARL13B (V77fs +1 more)	Duplication (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 263013	NM_001174150.2(ARL13B):c.270T>C (p.Tyr90=)	ARL13B	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 8 +1 more	GLikely benign
Select item 2131152	NM_001174150.2(ARL13B):c.277A>G (p.Ile93Val)	ARL13B (I93V +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 2159757	NM_001174150.2(ARL13B):c.286G>T (p.Val96Leu)	ARL13B (V96L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1045710	NM_001174150.2(ARL13B):c.305A>T (p.Glu102Val)	ARL13B (E102V +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 960272	NM_001174150.2(ARL13B):c.308G>T (p.Arg103Ile)	ARL13B (R103I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 8	GUncertain significance
Select item 1427905	NM_001174150.2(ARL13B):c.319A>G (p.Thr107Ala)	ARL13B (T4A +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1493493	NM_001174150.2(ARL13B):c.360A>G (p.Ile120Met)	ARL13B (I105M +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 2123318	NM_001174150.2(ARL13B):c.362C>T (p.Ser121Leu)	ARL13B (S18L +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 207910	NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu)	ARL13B (V127L +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 1079006	NM_001174150.2(ARL13B):c.380+8A>T	ARL13B	Single nucleotide variant (intron variant)	Joubert syndrome 8	GLikely benign
Select item 3036857	NM_001174150.2(ARL13B):c.380+10G>A	ARL13B	Single nucleotide variant (intron variant)	ARL13B-related disorder	GLikely benign

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