1392[Gene ID] - ClinVar

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Items: 55

	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 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 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 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 590197	NM_000756.4(CRH):c.579T>C (p.Ile193=)	CRH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2237856	NM_000756.4(CRH):c.529G>A (p.Ala177Thr)	CRH (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077406	NM_000756.4(CRH):c.522G>C (p.Met174Ile)	CRH (M174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1742464	NM_000756.4(CRH):c.468G>A (p.Glu156=)	CRH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 585726	NM_000756.4(CRH):c.456G>A (p.Arg152=)	CRH	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 587989	NM_000756.4(CRH):c.438G>A (p.Glu146=)	CRH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2545288	NM_000756.4(CRH):c.424G>A (p.Gly142Ser)	CRH (G142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311840	NM_000756.4(CRH):c.421C>G (p.Leu141Val)	CRH (L141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269491	NM_000756.4(CRH):c.419C>G (p.Ala140Gly)	CRH (A140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243545	NM_000756.4(CRH):c.394C>G (p.Leu132Val)	CRH (L132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721077	NM_000756.4(CRH):c.378C>G (p.Leu126=)	CRH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286918	NM_000756.4(CRH):c.367C>G (p.Arg123Gly)	CRH (R123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475509	NM_000756.4(CRH):c.340G>C (p.Val114Leu)	CRH (V114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729917	NM_000756.4(CRH):c.329A>G (p.Asn110Ser)	CRH (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585725	NM_000756.4(CRH):c.288A>C (p.Gly96=)	CRH	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 587862	NM_000756.4(CRH):c.239A>G (p.Asn80Ser)	CRH (N80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1784728	NM_000756.4(CRH):c.202A>T (p.Met68Leu)	CRH (M68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775494	NM_000756.4(CRH):c.157_180dup (p.Gln60_Ala61insSerGluGlnProGlnGlnProGln)	CRH	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 587822	NM_000756.4(CRH):c.146CGC[4] (p.Pro51dup)	CRH	Microsatellite (inframe_insertion)	not specified +1 more	GBenign
Select item 1256587	NM_000756.4(CRH):c.123T>G (p.Pro41=)	CRH, LOC130000523	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 587788	NM_000756.4(CRH):c.110C>T (p.Ala37Val)	CRH, LOC130000523 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183027	NM_000756.4(CRH):c.89C>G (p.Pro30Arg)	CRH, LOC130000523 (P30R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1764003	NM_000756.4(CRH):c.85G>A (p.Gly29Arg)	CRH, LOC130000523 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 587969	NM_000756.4(CRH):c.72G>A (p.Ala24=)	CRH, LOC130000523	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1757170	NM_000756.4(CRH):c.70G>A (p.Ala24Thr)	CRH, LOC130000523 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328356	NM_000756.4(CRH):c.52C>T (p.Pro18Ser)	CRH (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585727	NM_000756.4(CRH):c.51G>C (p.Leu17=)	CRH	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 41037	NM_000756.3(CRH):c.-365G>C	CRH	Single nucleotide variant	Autosomal dominant nocturnal frontal lobe epilepsy	Gnot provided
Select item 38800	NC_000008.11:g.66178947G>T	CRH	Single nucleotide variant	CRH-related disorder	GLikely benign
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 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 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 979236	GRCh37/hg19 8q13.1(chr8:67066779-67162066)x1	TRIM55, CRH	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: 55