CLVS1[gene] - ClinVar

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Items: 49

	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 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	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 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	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 3267944	NM_173519.3(CLVS1):c.100A>G (p.Thr34Ala)	CLVS1 (T34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146170	NM_173519.3(CLVS1):c.104T>C (p.Ile35Thr)	CLVS1 (I35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146171	NM_173519.3(CLVS1):c.125T>C (p.Leu42Pro)	CLVS1 (L42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261396	NM_173519.3(CLVS1):c.162G>T (p.Gln54His)	CLVS1 (Q54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146172	NM_173519.3(CLVS1):c.316G>A (p.Asp106Asn)	CLVS1 (D106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146173	NM_173519.3(CLVS1):c.518C>T (p.Pro173Leu)	CLVS1 (P173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267945	NM_173519.3(CLVS1):c.533A>G (p.Asn178Ser)	CLVS1 (N178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267946	NM_173519.3(CLVS1):c.596C>T (p.Pro199Leu)	CLVS1 (P199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152281	GRCh38/hg38 8q12.3(chr8:61424146-62002003)x3	ASPH, CLVS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2248357	NM_173519.3(CLVS1):c.671A>G (p.Asn224Ser)	CLVS1 (N224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521466	NM_173519.3(CLVS1):c.703C>T (p.Leu235Phe)	CLVS1 (L235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616892	NM_173519.3(CLVS1):c.778C>G (p.Gln260Glu)	CLVS1 (Q260E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343106	NM_173519.3(CLVS1):c.857C>T (p.Thr286Met)	CLVS1 (T286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146174	NM_173519.3(CLVS1):c.871G>A (p.Asp291Asn)	CLVS1 (D291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245489	NC_000008.10:g.(?_61653992)_(62626930_?)del	ASPH, CHD7 +1 more	Deletion	CHARGE syndrome	GPathogenic
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 2580343	GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1	ASPH, CA8 +4 more	Copy number loss	CHARGE syndrome	GPathogenic
Select item 1808884	GRCh37/hg19 8q12.3(chr8:62220903-62536203)x3	ASPH, CLVS1	Copy number gain	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 1444678	NC_000008.10:g.(?_61121344)_(62626930_?)dup	ASPH, CA8 +3 more	Duplication	CHARGE syndrome	GUncertain significance
Select item 1340326	GRCh37/hg19 8q12.2-12.3(chr8:62042468-62387124)x3	CLVS1	Copy number gain	not provided	GUncertain significance
Select item 977789	GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)	TOX, CLVS1 +5 more	Copy number gain	duplication 8q12	GLikely pathogenic
Select item 815129	GRCh37/hg19 8q12.3(chr8:62350388-62426150)x1	ASPH, CLVS1	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 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	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 442302	GRCh37/hg19 8q12.2-12.3(chr8:62172667-62616116)x1	ASPH, CLVS1	Copy number loss	See cases	GUncertain significance
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
Select item 394882	GRCh37/hg19 8q12.3(chr8:62207084-62604359)x1	ASPH, CLVS1	Copy number loss	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 49