8991[geneid] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 144803	GRCh38/hg38 1q21.3(chr1:151360648-151427484)x3	POGZ, PSMB4 +1 more	Copy number gain	See cases	GBenign
Select item 3159484	NM_003944.4(SELENBP1):c.1393G>A (p.Asp465Asn)	SELENBP1 (D465N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236433	NM_003944.4(SELENBP1):c.1388G>T (p.Gly463Val)	SELENBP1 (G401V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387385	NM_003944.4(SELENBP1):c.1337T>A (p.Phe446Tyr)	SELENBP1 (F384Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243121	NM_003944.4(SELENBP1):c.1323C>G (p.Asn441Lys)	SELENBP1 (N483K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049444	NM_003944.4(SELENBP1):c.1284T>C (p.Asp428=)	SELENBP1	Single nucleotide variant (synonymous variant)	SELENBP1-related disorder	GLikely benign
Select item 2279568	NM_003944.4(SELENBP1):c.1252A>C (p.Ile418Leu)	SELENBP1 (I418L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037147	NM_003944.4(SELENBP1):c.1209G>A (p.Thr403=)	SELENBP1	Single nucleotide variant (synonymous variant)	SELENBP1-related disorder	GLikely benign
Select item 3159483	NM_003944.4(SELENBP1):c.1208C>A (p.Thr403Lys)	SELENBP1 (T445K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037494	NM_003944.4(SELENBP1):c.1208C>T (p.Thr403Met)	SELENBP1 (T341M +2 more)	Single nucleotide variant (missense variant)	SELENBP1-related disorder	GBenign
Select item 2620894	NM_003944.4(SELENBP1):c.1130T>C (p.Val377Ala)	SELENBP1 (V377A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045077	NM_003944.4(SELENBP1):c.1112C>G (p.Ser371Cys)	SELENBP1 (S309C +2 more)	Single nucleotide variant (missense variant)	SELENBP1-related disorder	GLikely benign
Select item 2355340	NM_003944.4(SELENBP1):c.1111T>C (p.Ser371Pro)	SELENBP1 (S309P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775140	NM_003944.4(SELENBP1):c.1099G>A (p.Glu367Lys)	SELENBP1 (E305K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2618218	NM_003944.4(SELENBP1):c.1054G>C (p.Gly352Arg)	SELENBP1 (G290R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031521	NM_003944.4(SELENBP1):c.1044+6G>C	SELENBP1	Single nucleotide variant (intron variant)	SELENBP1-related disorder	GLikely benign
Select item 549495	NM_003944.4(SELENBP1):c.1039G>T (p.Gly347Ter)	SELENBP1 (G285* +2 more)	Single nucleotide variant (nonsense)	Extra oral halitosis	GLikely pathogenic
Select item 2307997	NM_003944.4(SELENBP1):c.1037C>G (p.Thr346Arg)	SELENBP1 (T284R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159482	NM_003944.4(SELENBP1):c.1028C>T (p.Pro343Leu)	SELENBP1 (P281L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317221	NM_003944.4(SELENBP1):c.1002G>C (p.Gln334His)	SELENBP1 (Q334H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549497	NM_003944.4(SELENBP1):c.985C>T (p.His329Tyr)	SELENBP1 (H267Y +2 more)	Single nucleotide variant (missense variant)	Extra oral halitosis	GLikely pathogenic
Select item 2542111	NM_003944.4(SELENBP1):c.981G>C (p.Trp327Cys)	SELENBP1 (W327C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236434	NM_003944.4(SELENBP1):c.970T>C (p.Phe324Leu)	SELENBP1 (F262L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231538	NM_003944.4(SELENBP1):c.968A>G (p.Tyr323Cys)	SELENBP1 (Y261C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395988	NM_003944.4(SELENBP1):c.958C>T (p.Arg320Cys)	SELENBP1 (R258C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159496	NM_003944.4(SELENBP1):c.934G>A (p.Asp312Asn)	SELENBP1 (D250N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484033	NM_003944.4(SELENBP1):c.893T>G (p.Val298Gly)	SELENBP1 (V340G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159495	NM_003944.4(SELENBP1):c.887A>G (p.Lys296Arg)	SELENBP1 (K296R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159494	NM_003944.4(SELENBP1):c.880C>T (p.Pro294Ser)	SELENBP1 (P336S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050784	NM_003944.4(SELENBP1):c.853T>C (p.Trp285Arg)	SELENBP1 (W223R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040206	NM_003944.4(SELENBP1):c.843+10G>A	SELENBP1	Single nucleotide variant (intron variant)	SELENBP1-related disorder	GLikely benign
Select item 2345909	NM_003944.4(SELENBP1):c.841G>A (p.Glu281Lys)	SELENBP1 (E323K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343131	NM_003944.4(SELENBP1):c.805G>A (p.Ala269Thr)	SELENBP1 (A311T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398235	NM_003944.4(SELENBP1):c.781G>A (p.Ala261Thr)	SELENBP1 (A199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347376	NM_003944.4(SELENBP1):c.761G>A (p.Arg254His)	SELENBP1 (R192H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159493	NM_003944.4(SELENBP1):c.760C>T (p.Arg254Cys)	SELENBP1 (R296C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051562	NM_003944.4(SELENBP1):c.759C>A (p.Ile253=)	SELENBP1	Single nucleotide variant (synonymous variant)	SELENBP1-related disorder	GLikely benign
Select item 3068121	NM_003944.4(SELENBP1):c.673G>A (p.Gly225Arg)	SELENBP1 (G163R +2 more)	Single nucleotide variant (missense variant)	Extraoral halitosis due to methanethiol oxidase deficiency	GUncertain significance
Select item 549486	NM_003944.4(SELENBP1):c.673G>T (p.Gly225Trp)	SELENBP1 (G163W +2 more)	Single nucleotide variant (missense variant)	Extra oral halitosis	GLikely pathogenic
Select item 3159492	NM_003944.4(SELENBP1):c.649G>A (p.Ala217Thr)	SELENBP1 (A259T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159491	NM_003944.4(SELENBP1):c.574T>C (p.Tyr192His)	SELENBP1 (Y234H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159490	NM_003944.4(SELENBP1):c.545G>C (p.Gly182Ala)	SELENBP1 (G120A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159489	NM_003944.4(SELENBP1):c.539C>G (p.Pro180Arg)	SELENBP1 (P180R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053535	NM_003944.4(SELENBP1):c.522G>A (p.Lys174=)	SELENBP1	Single nucleotide variant (synonymous variant)	SELENBP1-related disorder	GBenign
Select item 2282310	NM_003944.4(SELENBP1):c.505G>A (p.Glu169Lys)	SELENBP1 (E107K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244988	NM_003944.4(SELENBP1):c.485G>A (p.Gly162Asp)	SELENBP1 (G162D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585260	NM_003944.4(SELENBP1):c.481+1G>A	SELENBP1	Single nucleotide variant (splice donor variant)	Extraoral halitosis due to methanethiol oxidase deficiency	GPathogenic
Select item 2296016	NM_003944.4(SELENBP1):c.474T>A (p.Asn158Lys)	SELENBP1 (N158K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159488	NM_003944.4(SELENBP1):c.466A>G (p.Lys156Glu)	SELENBP1 (K156E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458810	NM_003944.4(SELENBP1):c.436G>A (p.Glu146Lys)	SELENBP1 (E188K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033421	NM_003944.4(SELENBP1):c.432C>T (p.Ser144=)	SELENBP1	Single nucleotide variant (synonymous variant)	SELENBP1-related disorder	GBenign
Select item 2220737	NM_003944.4(SELENBP1):c.400G>C (p.Ala134Pro)	SELENBP1 (A134P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399587	NM_003944.4(SELENBP1):c.365T>C (p.Ile122Thr)	SELENBP1 (I122T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159486	NM_003944.4(SELENBP1):c.283G>C (p.Val95Leu)	SELENBP1 (V137L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159485	NM_003944.4(SELENBP1):c.184C>T (p.Arg62Trp)	SELENBP1 (R104W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791811	NM_003944.4(SELENBP1):c.175-6T>C	SELENBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784448	NM_003944.4(SELENBP1):c.175-9G>T	SELENBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052836	NM_003944.4(SELENBP1):c.66C>T (p.Pro22=)	SELENBP1	Single nucleotide variant (synonymous variant)	SELENBP1-related disorder	GBenign
Select item 3041844	NM_003944.4(SELENBP1):c.62-6G>A	SELENBP1	Single nucleotide variant (intron variant)	SELENBP1-related disorder	GLikely benign
Select item 3159487	NM_003944.4(SELENBP1):c.31G>A (p.Gly11Ser)	SELENBP1 (G53S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057023	NM_003944.4(SELENBP1):c.5-18G>A	SELENBP1 (R38H)	Single nucleotide variant (missense variant +1 more)	SELENBP1-related disorder	GBenign
Select item 3247711	NC_000001.10:g.(?_151314662)_(151666077_?)del	CGN, POGZ +5 more	Deletion	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1527282	GRCh37/hg19 1q21.3(chr1:151179825-151377786)	PI4KB, PIP5K1A +6 more	Copy number loss	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1023952	NC_000001.10:g.(?_151122490)_(151585008_?)dup	PSMB4, PIP5K1A +14 more	Duplication	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394742	GRCh37/hg19 1q21.3(chr1:151336508-151399970)x3	POGZ, PSMB4 +1 more	Copy number gain	See cases	GLikely benign
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 77