QRICH2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 1176695	NM_001388453.1(QRICH2):c.5634G>T (p.Thr1878=)	QRICH2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3044140	NM_001388453.1(QRICH2):c.5517C>T (p.Ser1839=)	QRICH2	Single nucleotide variant (synonymous variant +2 more)	QRICH2-related condition	GBenign
Select item 3056083	NM_001388453.1(QRICH2):c.5512T>G (p.Ser1838Ala)	QRICH2 (S1838A)	Single nucleotide variant (missense variant +2 more)	QRICH2-related condition	GBenign
Select item 3043430	NM_001388453.1(QRICH2):c.5451G>A (p.Gln1817=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	QRICH2-related condition	GLikely benign
Select item 2409683	NM_001388453.1(QRICH2):c.5444G>A (p.Arg1815Gln)	QRICH2 (R1815Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380306	NM_001388453.1(QRICH2):c.5372G>A (p.Arg1791His)	QRICH2 (R1791H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2485349	NM_001388453.1(QRICH2):c.5345G>A (p.Arg1782Gln)	QRICH2 (R1782Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042073	NM_001388453.1(QRICH2):c.5298C>G (p.Gly1766=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	QRICH2-related condition	GBenign
Select item 1298725	NM_001388453.1(QRICH2):c.5266-2A>G	QRICH2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2329575	NM_001388453.1(QRICH2):c.5227G>C (p.Gly1743Arg)	QRICH2 (G1743R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224839	NM_001388453.1(QRICH2):c.5224C>T (p.Arg1742Trp)	QRICH2 (R1742W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055373	NM_001388453.1(QRICH2):c.5210C>T (p.Pro1737Leu)	QRICH2 (P1737L)	Single nucleotide variant (missense variant +1 more)	QRICH2-related condition	GBenign
Select item 2380758	NM_001388453.1(QRICH2):c.5162G>A (p.Arg1721His)	QRICH2 (R1721H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220096	NM_001388453.1(QRICH2):c.5159G>A (p.Arg1720Gln)	QRICH2 (R1720Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648301	NM_001388453.1(QRICH2):c.5115A>G (p.Lys1705=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 974677	NM_001388453.1(QRICH2):c.5112C>G (p.Tyr1704Ter)	QRICH2 (Y1538* +1 more)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 35	GPathogenic
Select item 2648302	NM_001388453.1(QRICH2):c.5079G>A (p.Leu1693=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2544324	NM_001388453.1(QRICH2):c.5071C>T (p.Arg1691Cys)	QRICH2 (R1691C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037452	NM_001388453.1(QRICH2):c.4986C>T (p.Arg1662=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	QRICH2-related condition	GLikely benign
Select item 3034373	NM_001388453.1(QRICH2):c.4979G>A (p.Arg1660His)	QRICH2 (R1660H)	Single nucleotide variant (missense variant +1 more)	QRICH2-related condition	GBenign
Select item 3044394	NM_001388453.1(QRICH2):c.4955C>T (p.Ala1652Val)	QRICH2 (A1652V)	Single nucleotide variant (missense variant +1 more)	QRICH2-related condition	GBenign
Select item 2592634	NM_001388453.1(QRICH2):c.4938C>A (p.Phe1646Leu)	QRICH2 (F1646L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2630353	NM_001388453.1(QRICH2):c.4914dup (p.Asn1639fs)	QRICH2 (N1639fs)	Duplication (frameshift variant +1 more)	QRICH2-related condition	GLikely pathogenic
Select item 1327925	NM_001388453.1(QRICH2):c.4878G>A (p.Thr1626=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	Spermatogenic failure 35 +1 more	GBenign
Select item 2648303	NM_001388453.1(QRICH2):c.4868G>A (p.Arg1623His)	QRICH2 (R1623H)	Single nucleotide variant (missense variant +1 more)	QRICH2-related condition +1 more	GBenign
Select item 2306623	NM_001388453.1(QRICH2):c.4832C>A (p.Pro1611His)	QRICH2 (P1611H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1327926	NM_001388453.1(QRICH2):c.4748+47G>A	QRICH2	Single nucleotide variant (intron variant)	Spermatogenic failure 35	GBenign
Select item 1298726	NM_001388453.1(QRICH2):c.4705C>T (p.Arg1569Cys)	QRICH2 (R1569C)	Single nucleotide variant (missense variant +1 more)	QRICH2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2251741	NM_001388453.1(QRICH2):c.4704G>T (p.Glu1568Asp)	QRICH2 (E1568D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648304	NM_001388453.1(QRICH2):c.4673G>A (p.Arg1558Gln)	QRICH2 (R1558Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2367687	NM_001388453.1(QRICH2):c.4593G>A (p.Met1531Ile)	QRICH2 (M1531I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495863	NM_001388453.1(QRICH2):c.4540A>T (p.Met1514Leu)	QRICH2 (M1514L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648305	NM_001388453.1(QRICH2):c.4408A>G (p.Lys1470Glu)	QRICH2 (K1470E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3044747	NM_001388453.1(QRICH2):c.4386+10C>T	QRICH2	Single nucleotide variant (intron variant)	QRICH2-related condition	GLikely benign
Select item 2385953	NM_001388453.1(QRICH2):c.4321G>A (p.Glu1441Lys)	QRICH2 (E1441K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507025	NM_001388453.1(QRICH2):c.4306G>A (p.Val1436Met)	QRICH2 (V1436M)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 35	GUncertain significance
Select item 2465132	NM_001388453.1(QRICH2):c.4283G>A (p.Arg1428His)	QRICH2 (R1428H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3060505	NM_001388453.1(QRICH2):c.4264-5C>T	QRICH2	Single nucleotide variant (intron variant)	QRICH2-related condition	GBenign
Select item 2540149	NM_001388453.1(QRICH2):c.4244A>C (p.Lys1415Thr)	QRICH2 (K1415T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648306	NM_001388453.1(QRICH2):c.4225G>A (p.Val1409Ile)	QRICH2 (V1409I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2308221	NM_001388453.1(QRICH2):c.4223C>G (p.Ala1408Gly)	QRICH2 (A1408G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598766	NM_001388453.1(QRICH2):c.4187G>A (p.Arg1396His)	QRICH2 (R1396H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287408	NM_001388453.1(QRICH2):c.4181T>C (p.Val1394Ala)	QRICH2 (V1394A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220091	NM_001388453.1(QRICH2):c.4175C>T (p.Thr1392Met)	QRICH2 (T1392M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2388483	NM_001388453.1(QRICH2):c.4120G>A (p.Asp1374Asn)	QRICH2 (D1374N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3041046	NM_001388453.1(QRICH2):c.4086G>A (p.Pro1362=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	QRICH2-related condition	GBenign
Select item 974676	NM_001388453.1(QRICH2):c.3999C>G (p.Tyr1333Ter)	QRICH2 (Y1167* +1 more)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 35	GPathogenic
Select item 2257725	NM_001388453.1(QRICH2):c.3954G>C (p.Arg1318Ser)	QRICH2 (R1318S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468132	NM_001388453.1(QRICH2):c.3904G>A (p.Val1302Met)	QRICH2 (V1302M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3060372	NM_001388453.1(QRICH2):c.3789G>A (p.Glu1263=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	QRICH2-related condition	GBenign
Select item 3059486	NM_001388453.1(QRICH2):c.3765G>A (p.Thr1255=)	QRICH2	Single nucleotide variant (synonymous variant +1 more)	QRICH2-related condition	GBenign
Select item 2648307	NM_001388453.1(QRICH2):c.3728C>G (p.Pro1243Arg)	QRICH2 (P1243R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1327927	NM_001388453.1(QRICH2):c.3713-15T>C	QRICH2	Single nucleotide variant (intron variant)	Spermatogenic failure 35	GBenign
Select item 3059391	NM_001388453.1(QRICH2):c.3712+9C>T	QRICH2	Single nucleotide variant (intron variant)	QRICH2-related condition	GBenign
Select item 2282342	NM_001388453.1(QRICH2):c.3701T>A (p.Leu1234Gln)	QRICH2 (L1234Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039623	NM_001388453.1(QRICH2):c.3667G>A (p.Gly1223Ser)	QRICH2 (G1223S)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 3060169	NM_001388453.1(QRICH2):c.3604G>C (p.Glu1202Gln)	QRICH2 (E1202Q)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 3041329	NM_001388453.1(QRICH2):c.3579A>G (p.Ala1193=)	QRICH2	Single nucleotide variant (synonymous variant)	QRICH2-related condition	GLikely benign
Select item 2207072	NM_001388453.1(QRICH2):c.3550C>T (p.Arg1184Cys)	QRICH2 (R1184C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 619118	NM_001388453.1(QRICH2):c.3535C>T (p.Arg1179Ter)	QRICH2 (R1013* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 35	GPathogenic
Select item 3056251	NM_001388453.1(QRICH2):c.3488G>A (p.Arg1163Gln)	QRICH2 (R1163Q)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 3060994	NM_001388453.1(QRICH2):c.3419A>G (p.His1140Arg)	QRICH2 (H1140R)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 2379796	NM_001388453.1(QRICH2):c.3416G>A (p.Arg1139Gln)	QRICH2 (R1139Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2321117	NM_001388453.1(QRICH2):c.3360T>G (p.Ser1120Arg)	QRICH2 (S1120R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234697	NM_001388453.1(QRICH2):c.3341G>A (p.Arg1114His)	QRICH2 (R1114H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060831	NM_001388453.1(QRICH2):c.3214C>T (p.His1072Tyr)	QRICH2 (H1072Y)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 2493959	NM_001388453.1(QRICH2):c.3202T>G (p.Leu1068Val)	QRICH2 (L1068V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648308	NM_001388453.1(QRICH2):c.3057C>T (p.Tyr1019=)	QRICH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216084	NM_001388453.1(QRICH2):c.3013C>T (p.Arg1005Cys)	QRICH2 (R1005C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356724	NM_001388453.1(QRICH2):c.2966G>A (p.Arg989His)	QRICH2 (R989H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250333	NM_001388453.1(QRICH2):c.2943G>C (p.Leu981Phe)	QRICH2 (L981F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215115	NM_001388453.1(QRICH2):c.2779G>C (p.Asp927His)	QRICH2 (D927H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283110	NM_001388453.1(QRICH2):c.2704G>A (p.Val902Ile)	QRICH2 (V902I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229975	NM_001388453.1(QRICH2):c.2694G>C (p.Gln898His)	QRICH2 (Q898H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335297	NM_001388453.1(QRICH2):c.2616G>C (p.Val872=)	QRICH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2352000	NM_001388453.1(QRICH2):c.2605C>T (p.Arg869Cys)	QRICH2 (R869C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049672	NM_001388453.1(QRICH2):c.2572C>G (p.Gln858Glu)	QRICH2 (Q858E)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 3059047	NM_001388453.1(QRICH2):c.2546A>G (p.His849Arg)	QRICH2 (H849R)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 2648309	NM_001388453.1(QRICH2):c.2540T>A (p.Val847Asp)	QRICH2 (V847D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3060652	NM_001388453.1(QRICH2):c.2496T>C (p.Val832=)	QRICH2	Single nucleotide variant (synonymous variant)	QRICH2-related condition	GBenign
Select item 3038458	NM_001388453.1(QRICH2):c.2494G>T (p.Val832Phe)	QRICH2 (V832F)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 2466586	NM_001388453.1(QRICH2):c.2486G>A (p.Arg829His)	QRICH2 (R829H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228918	NM_001388453.1(QRICH2):c.2455C>T (p.Arg819Cys)	QRICH2 (R819C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648310	NM_001388453.1(QRICH2):c.2436G>C (p.Val812=)	QRICH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301947	NM_001388453.1(QRICH2):c.2432T>C (p.Leu811Ser)	QRICH2 (L811S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059124	NM_001388453.1(QRICH2):c.2386_2415del (p.Ile796_Gly805del)	QRICH2	Deletion (inframe deletion)	QRICH2-related condition	GBenign
Select item 2648311	NM_001388453.1(QRICH2):c.2406G>T (p.Val802=)	QRICH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049624	NM_001388453.1(QRICH2):c.2387T>C (p.Ile796Thr)	QRICH2 (I796T)	Single nucleotide variant (missense variant)	QRICH2-related condition	GLikely benign
Select item 3049319	NM_001388453.1(QRICH2):c.2386A>G (p.Ile796Val)	QRICH2 (I796V)	Single nucleotide variant (missense variant)	QRICH2-related condition	GLikely benign
Select item 932432	NM_001388453.1(QRICH2):c.2295_2324del (p.Ala766_Gly775del)	QRICH2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3037757	NM_001388453.1(QRICH2):c.2306A>G (p.His769Arg)	QRICH2 (H769R)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 2350907	NM_001388453.1(QRICH2):c.2258C>A (p.Pro753Gln)	QRICH2 (P753Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3059125	NM_001388453.1(QRICH2):c.2238TCA[1] (p.His747del)	QRICH2 (H747del)	Microsatellite (inframe deletion)	QRICH2-related condition	GBenign
Select item 2346948	NM_001388453.1(QRICH2):c.2231G>A (p.Arg744His)	QRICH2 (R744H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043991	NM_001388453.1(QRICH2):c.2212C>T (p.Arg738Cys)	QRICH2 (R738C)	Single nucleotide variant (missense variant)	QRICH2-related condition	GBenign
Select item 2215114	NM_001388453.1(QRICH2):c.2181G>C (p.Gln727His)	QRICH2 (Q727H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476128	NM_001388453.1(QRICH2):c.2171G>A (p.Gly724Asp)	QRICH2 (G724D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305819	NM_001388453.1(QRICH2):c.2077C>G (p.Pro693Ala)	QRICH2 (P693A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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