BHLHE40[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 153453	GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3	ARL8B, BHLHE40 +92 more	Copy number gain	See cases	GUncertain significance
Select item 60052	GRCh38/hg38 3p26.1(chr3:4746966-5426775)x1	ARL8B, BHLHE40 +53 more	Copy number loss	See cases	GUncertain significance
Select item 148215	GRCh38/hg38 3p26.1(chr3:4803434-6476213)x3	ARL8B, BHLHE40 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154593	GRCh38/hg38 3p26.1(chr3:4827431-5187097)x3	ARL8B, BHLHE40 +33 more	Copy number gain	See cases	GUncertain significance
Select item 151878	GRCh38/hg38 3p26.1(chr3:4952758-4989256)x3	BHLHE40, BHLHE40-AS1 +10 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 154441	GRCh38/hg38 3p26.1(chr3:4952791-5689195)x3	ARL8B, BHLHE40 +43 more	Copy number gain	See cases	GLikely benign
Select item 3260858	NM_003670.3(BHLHE40):c.32C>T (p.Pro11Leu)	BHLHE40, BHLHE40-AS1 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338422	NM_003670.3(BHLHE40):c.32C>G (p.Pro11Arg)	BHLHE40, BHLHE40-AS1 (P11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557855	NM_003670.3(BHLHE40):c.97A>G (p.Met33Val)	BHLHE40 (M33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259791	NM_003670.3(BHLHE40):c.107T>C (p.Val36Ala)	BHLHE40 (V36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133814	NM_003670.3(BHLHE40):c.430T>G (p.Ser144Ala)	BHLHE40 (S144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315914	NM_003670.3(BHLHE40):c.452G>A (p.Arg151Gln)	BHLHE40 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133815	NM_003670.3(BHLHE40):c.532G>C (p.Val178Leu)	BHLHE40 (V178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260860	NM_003670.3(BHLHE40):c.584C>T (p.Ala195Val)	BHLHE40 (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133816	NM_003670.3(BHLHE40):c.649A>G (p.Lys217Glu)	BHLHE40 (K217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225144	NM_003670.3(BHLHE40):c.682G>A (p.Ala228Thr)	BHLHE40 (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260857	NM_003670.3(BHLHE40):c.829G>A (p.Ala277Thr)	BHLHE40 (A277T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213982	NM_003670.3(BHLHE40):c.856C>T (p.Pro286Ser)	BHLHE40 (P286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400818	NM_003670.3(BHLHE40):c.859A>G (p.Thr287Ala)	BHLHE40 (T287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653460	NM_003670.3(BHLHE40):c.879G>A (p.Gln293=)	BHLHE40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569301	NM_003670.3(BHLHE40):c.910A>C (p.Ser304Arg)	BHLHE40 (S304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401461	NM_003670.3(BHLHE40):c.928C>A (p.Pro310Thr)	BHLHE40 (P310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327572	NM_003670.3(BHLHE40):c.937G>A (p.Gly313Ser)	BHLHE40 (G313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260861	NM_003670.3(BHLHE40):c.1093T>G (p.Phe365Val)	BHLHE40 (F365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469323	NM_003670.3(BHLHE40):c.1102C>T (p.Pro368Ser)	BHLHE40 (P368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133812	NM_003670.3(BHLHE40):c.1125G>T (p.Leu375Phe)	BHLHE40 (L375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133813	NM_003670.3(BHLHE40):c.1126C>T (p.Leu376Phe)	BHLHE40 (L376F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260859	NM_003670.3(BHLHE40):c.1171G>A (p.Val391Ile)	BHLHE40 (V391I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062676	GRCh37/hg19 3p26.2-26.1(chr3:3282609-5207411)x1	ARL8B, BHLHE40 +5 more	Copy number loss	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 1808511	GRCh37/hg19 3p26.3-26.1(chr3:2347813-6381546)x3	ARL8B, BHLHE40 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807746	GRCh37/hg19 3p26.2-26.1(chr3:3718732-5377364)x1	ARL8B, BHLHE40 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526994	GRCh37/hg19 3p26.1(chr3:4876684-7615554)	ARL8B, BHLHE40 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1180543	GRCh37/hg19 3p26.3-26.1(chr3:60001-8472742)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 1047886	GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479)	ARL8B, BHLHE40 +12 more	Copy number loss	Abnormal brain morphology	GPathogenic
Select item 980633	GRCh37/hg19 3p26.1(chr3:4921390-5408983)x3	BHLHE40, EDEM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 688515	GRCh37/hg19 3p26.3-26.1(chr3:61891-6067006)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 687650	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 687648	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 638144	GRCh37/hg19 3p26.1(chr3:4812298-5515770)x3	ITPR1, BHLHE40 +2 more	Copy number gain	See cases	GUncertain significance
Select item 635936	Single allele	ARL8B, BHLHE40 +20 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 625697	GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572)	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 562690	GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1	CRBN, LRRN1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562689	GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1	TRNT1, SUMF1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562688	GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1	SETMAR, EDEM1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562687	GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1	EDEM1, EGOT +13 more	Copy number loss	not provided	GPathogenic
Select item 562686	GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1	IL5RA, BHLHE40 +11 more	Copy number loss	not provided	GPathogenic
Select item 560068	Single allele	ITPR1, SUMF1 +4 more	Duplication	not provided	GUncertain significance
Select item 523278	GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)	ARL8B, BHLHE40 +12 more	Copy number loss	Seizure +2 more	GLikely pathogenic
Select item 443797	GRCh37/hg19 3p26.2-26.1(chr3:2930451-5953602)x1	ARL8B, BHLHE40 +10 more	Copy number loss	See cases	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2