BHLHE22[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 144167	GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1	ASPH, BHLHE22 +79 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147490	GRCh38/hg38 8q12.3(chr8:64079639-64886541)x1	BHLHE22, BHLHE22-AS1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 2282704	NM_152414.5(BHLHE22):c.7C>A (p.Arg3Ser)	BHLHE22, BHLHE22-AS1 (R3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260850	NM_152414.5(BHLHE22):c.34G>A (p.Ala12Thr)	BHLHE22, BHLHE22-AS1 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133808	NM_152414.5(BHLHE22):c.37G>C (p.Gly13Arg)	BHLHE22, BHLHE22-AS1 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334920	NM_152414.5(BHLHE22):c.38G>A (p.Gly13Asp)	BHLHE22, BHLHE22-AS1 (G13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133805	NM_152414.5(BHLHE22):c.101C>G (p.Ala34Gly)	BHLHE22, BHLHE22-AS1 (A34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545444	NM_152414.5(BHLHE22):c.196G>C (p.Glu66Gln)	BHLHE22, BHLHE22-AS1 (E66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382105	NM_152414.5(BHLHE22):c.233C>G (p.Pro78Arg)	BHLHE22, BHLHE22-AS1 (P78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260849	NM_152414.5(BHLHE22):c.286G>A (p.Gly96Ser)	BHLHE22, BHLHE22-AS1 (G96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365598	NM_152414.5(BHLHE22):c.287G>A (p.Gly96Asp)	BHLHE22, BHLHE22-AS1 (G96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133806	NM_152414.5(BHLHE22):c.289G>A (p.Gly97Arg)	BHLHE22, BHLHE22-AS1 (G97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133807	NM_152414.5(BHLHE22):c.305G>C (p.Gly102Ala)	BHLHE22, BHLHE22-AS1 (G102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495065	NM_152414.5(BHLHE22):c.325G>A (p.Gly109Ser)	BHLHE22, BHLHE22-AS1 (G109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542077	NM_152414.5(BHLHE22):c.384G>C (p.Lys128Asn)	BHLHE22, BHLHE22-AS1 +1 more (K128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511937	NM_152414.5(BHLHE22):c.406G>C (p.Gly136Arg)	BHLHE22, BHLHE22-AS1 +1 more (G136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133809	NM_152414.5(BHLHE22):c.514G>C (p.Gly172Arg)	BHLHE22, BHLHE22-AS1 (G172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133810	NM_152414.5(BHLHE22):c.556A>G (p.Asn186Asp)	BHLHE22, BHLHE22-AS1 (N186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217822	NM_152414.5(BHLHE22):c.596G>A (p.Gly199Asp)	BHLHE22, BHLHE22-AS1 (G199D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609303	NM_152414.5(BHLHE22):c.604G>T (p.Gly202Cys)	BHLHE22, BHLHE22-AS1 (G202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260851	NM_152414.5(BHLHE22):c.655A>G (p.Ser219Gly)	BHLHE22, BHLHE22-AS1 (S219G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 777832	NM_152414.5(BHLHE22):c.660T>C (p.Gly220=)	BHLHE22, BHLHE22-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218845	NM_152414.5(BHLHE22):c.661AGCGGC[3] (p.219SG[4])	BHLHE22, BHLHE22-AS1	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 2604863	NM_152414.5(BHLHE22):c.664G>A (p.Gly222Ser)	BHLHE22, BHLHE22-AS1 (G222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616659	NM_152414.5(BHLHE22):c.670G>A (p.Gly224Ser)	BHLHE22, BHLHE22-AS1 (G224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483550	NM_152414.5(BHLHE22):c.671G>C (p.Gly224Ala)	BHLHE22, BHLHE22-AS1 (G224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366145	NM_152414.5(BHLHE22):c.673G>A (p.Gly225Ser)	BHLHE22, BHLHE22-AS1 (G225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349380	NM_152414.5(BHLHE22):c.679A>G (p.Ser227Gly)	BHLHE22, BHLHE22-AS1 (S227G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614116	NM_152414.5(BHLHE22):c.680G>A (p.Ser227Asn)	BHLHE22, BHLHE22-AS1 (S227N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349381	NM_152414.5(BHLHE22):c.682A>G (p.Ser228Gly)	BHLHE22, BHLHE22-AS1 (S228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410084	NM_152414.5(BHLHE22):c.691A>G (p.Ser231Gly)	BHLHE22, BHLHE22-AS1 (S231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298750	NM_152414.5(BHLHE22):c.692G>C (p.Ser231Thr)	BHLHE22, BHLHE22-AS1 (S231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260855	NM_152414.5(BHLHE22):c.701G>C (p.Ser234Thr)	BHLHE22-AS1, BHLHE22 (S234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133811	NM_152414.5(BHLHE22):c.826T>G (p.Ser276Ala)	BHLHE22, BHLHE22-AS1 (S276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261755	NM_152414.5(BHLHE22):c.961C>G (p.Leu321Val)	BHLHE22, BHLHE22-AS1 (L321V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617253	NM_152414.5(BHLHE22):c.1028A>C (p.Gln343Pro)	BHLHE22, BHLHE22-AS1 (Q343P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454580	NM_152414.5(BHLHE22):c.1034C>T (p.Ala345Val)	BHLHE22, BHLHE22-AS1 (A345V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250442	NM_152414.5(BHLHE22):c.1060C>T (p.Pro354Ser)	BHLHE22, BHLHE22-AS1 (P354S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474647	NM_152414.5(BHLHE22):c.1115G>A (p.Ser372Asn)	BHLHE22 (S372N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360490	NM_152414.5(BHLHE22):c.1116C>G (p.Ser372Arg)	BHLHE22 (S372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1809323	GRCh37/hg19 8q12.3-13.1(chr8:64049070-66671663)x1	ARMC1, BHLHE22 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 815131	GRCh37/hg19 8q12.3(chr8:65435916-65831159)x3	BHLHE22, CYP7B1	Copy number gain	not provided	GLikely benign
Select item 815130	GRCh37/hg19 8q12.3(chr8:65216452-65845271)x1	BHLHE22, CYP7B1	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 67