QSER1[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2641709	NM_001076786.3(QSER1):c.133GCC[7] (p.Ala50_Ser51insAla)	LOC130005488, QSER1	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2361888	NM_001076786.3(QSER1):c.715C>A (p.Pro239Thr)	QSER1 (P239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641710	NM_001076786.3(QSER1):c.780T>C (p.Ser260=)	QSER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280754	NM_001076786.3(QSER1):c.788A>G (p.Tyr263Cys)	QSER1 (Y263C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641711	NM_001076786.3(QSER1):c.999A>G (p.Gln333=)	QSER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270175	NM_001076786.3(QSER1):c.1082C>G (p.Ser361Cys)	QSER1 (S361C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227884	NM_001076786.3(QSER1):c.1094G>C (p.Ser365Thr)	QSER1 (S365T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356688	NM_001076786.3(QSER1):c.1099A>G (p.Ile367Val)	QSER1 (I367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2267533	NM_001076786.3(QSER1):c.1112C>T (p.Thr371Ile)	QSER1 (T371I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214849	NM_001076786.3(QSER1):c.1208C>T (p.Pro403Leu)	QSER1 (P403L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304887	NM_001076786.3(QSER1):c.1250C>T (p.Pro417Leu)	QSER1 (P417L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339505	NM_001076786.3(QSER1):c.1321C>A (p.Pro441Thr)	QSER1 (P441T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461583	NM_001076786.3(QSER1):c.1348T>C (p.Ser450Pro)	QSER1 (S396P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535175	NM_001076786.3(QSER1):c.1499C>G (p.Pro500Arg)	QSER1 (P500R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641712	NM_001076786.3(QSER1):c.1560G>A (p.Thr520=)	QSER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216474	NM_001076786.3(QSER1):c.1810T>C (p.Tyr604His)	QSER1 (Y604H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597410	NM_001076786.3(QSER1):c.1825C>T (p.Arg609Trp)	QSER1 (R555W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459674	NM_001076786.3(QSER1):c.1873A>G (p.Met625Val)	QSER1 (M571V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517796	NM_001076786.3(QSER1):c.1925A>G (p.Gln642Arg)	QSER1 (Q642R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641713	NM_001076786.3(QSER1):c.2082A>G (p.Pro694=)	QSER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277627	NM_001076786.3(QSER1):c.2137A>G (p.Arg713Gly)	QSER1 (R713G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241939	NM_001076786.3(QSER1):c.2146G>A (p.Asp716Asn)	QSER1 (D716N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241940	NM_001076786.3(QSER1):c.2149G>A (p.Gly717Arg)	QSER1 (G717R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381405	NM_001076786.3(QSER1):c.2251A>C (p.Ile751Leu)	QSER1 (I751L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490310	NM_001076786.3(QSER1):c.2261C>T (p.Ala754Val)	QSER1 (A754V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464875	NM_001076786.3(QSER1):c.2513A>G (p.Asn838Ser)	QSER1 (N784S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241870	NM_001076786.3(QSER1):c.2564T>C (p.Leu855Pro)	QSER1 (L855P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544325	NM_001076786.3(QSER1):c.2588A>C (p.Gln863Pro)	QSER1 (Q809P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206316	NM_001076786.3(QSER1):c.2768T>C (p.Met923Thr)	QSER1 (M923T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241117	NM_001076786.3(QSER1):c.2772A>T (p.Lys924Asn)	QSER1 (K924N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402117	NM_001076786.3(QSER1):c.2773A>G (p.Met925Val)	QSER1 (M925V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294748	NM_001076786.3(QSER1):c.2849A>G (p.His950Arg)	QSER1 (H950R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616317	NM_001076786.3(QSER1):c.2875C>T (p.Leu959Phe)	QSER1 (L905F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359897	NM_001076786.3(QSER1):c.3122A>G (p.Lys1041Arg)	QSER1 (K1041R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605065	NM_001076786.3(QSER1):c.3190G>C (p.Ala1064Pro)	QSER1 (A1010P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385728	NM_001076786.3(QSER1):c.3202A>G (p.Lys1068Glu)	QSER1 (K1068E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343467	NM_001076786.3(QSER1):c.3281C>G (p.Pro1094Arg)	QSER1 (P1094R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367706	NM_001076786.3(QSER1):c.3323A>G (p.Lys1108Arg)	QSER1 (K1108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606792	NM_001076786.3(QSER1):c.3349G>A (p.Glu1117Lys)	QSER1 (E1117K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350170	NM_001076786.3(QSER1):c.3456T>A (p.Ser1152Arg)	QSER1 (S1152R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221108	NM_001076786.3(QSER1):c.3559A>C (p.Lys1187Gln)	QSER1 (K1187Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291652	NM_001076786.3(QSER1):c.3613G>A (p.Ala1205Thr)	QSER1 (A1205T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2215214	NM_001076786.3(QSER1):c.3657G>C (p.Gln1219His)	QSER1 (Q1219H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540210	NM_001076786.3(QSER1):c.3689G>A (p.Arg1230His)	QSER1 (R1176H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360426	NM_001076786.3(QSER1):c.3754G>A (p.Asp1252Asn)	QSER1 (D1252N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607717	NM_001076786.3(QSER1):c.3899G>A (p.Arg1300Gln)	QSER1 (R1246Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239412	NM_001076786.3(QSER1):c.3956C>G (p.Pro1319Arg)	QSER1 (P1319R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313541	NM_001076786.3(QSER1):c.3991C>T (p.Pro1331Ser)	QSER1 (P1331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264452	NM_001076786.3(QSER1):c.4339A>G (p.Ile1447Val)	QSER1 (I1447V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304886	NM_001076786.3(QSER1):c.4738T>C (p.Ser1580Pro)	QSER1 (S1580P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184314	NC_000011.10:g.32963226_33107103dup	CSTF3, DEPDC7 +10 more	Duplication	not provided	GUncertain significance
Select item 2235187	NM_001076786.3(QSER1):c.5162G>A (p.Arg1721Gln)	QSER1 (R1721Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788280	NM_001076786.3(QSER1):c.5196A>G (p.Gln1732=)	QSER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063213	GRCh37/hg19 11p13(chr11:32963206-33652440)x1	CSTF3, DEPDC7 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979924	GRCh37/hg19 11p13(chr11:32975924-33678760)x3	CSTF3, KIAA1549L +5 more	Copy number gain	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	GALNT18, SAA1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	APIP, BDNF +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 75