QRICH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2505228	NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)	QRICH1 (I760fs)	Deletion (frameshift variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 1703943	NM_198880.3(QRICH1):c.2266C>T (p.Arg756Trp)	QRICH1 (R756W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3041908	NM_198880.3(QRICH1):c.2265G>A (p.Thr755=)	QRICH1	Single nucleotide variant (synonymous variant)	QRICH1-related disorder	GBenign
Select item 2588248	NM_198880.3(QRICH1):c.2264C>T (p.Thr755Met)	QRICH1 (T755M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698137	NM_198880.3(QRICH1):c.2257A>G (p.Met753Val)	QRICH1 (M753V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2372537	NM_198880.3(QRICH1):c.2248A>G (p.Met750Val)	QRICH1 (M750V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630861	NM_198880.3(QRICH1):c.2229G>C (p.Gln743His)	QRICH1 (Q743H)	Single nucleotide variant (missense variant)	QRICH1-related disorder	GUncertain significance
Select item 1329931	NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)	QRICH1 (W739*)	Single nucleotide variant (nonsense)	Ververi-Brady syndrome	GConflicting classifications of pathogenicity
Select item 1343261	NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met)	QRICH1 (I738M)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 3346345	NM_198880.3(QRICH1):c.2209C>A (p.Pro737Thr)	QRICH1 (P737T)	Single nucleotide variant (missense variant)	QRICH1-related disorder	GUncertain significance
Select item 3370711	NM_198880.3(QRICH1):c.2207G>T (p.Ser736Ile)	QRICH1 (S736I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929834	NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)	QRICH1 (S736N)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 3337502	NM_198880.3(QRICH1):c.2175C>G (p.Tyr725Ter)	QRICH1 (Y725*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 773573	NM_198880.3(QRICH1):c.2166C>T (p.Asp722=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2692558	NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)	QRICH1 (R720Q)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 1804811	NM_198880.3(QRICH1):c.2139-17A>C	QRICH1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2412832	NM_198880.3(QRICH1):c.2114T>G (p.Leu705Arg)	QRICH1 (L705R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698195	NM_198880.3(QRICH1):c.2080A>G (p.Asn694Asp)	QRICH1 (N694D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653818	NM_198880.3(QRICH1):c.2076G>A (p.Thr692=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672939	NM_198880.3(QRICH1):c.2066C>G (p.Ala689Gly)	QRICH1 (A689G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706658	NM_198880.3(QRICH1):c.2005C>T (p.Arg669Trp)	QRICH1 (R669W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675920	NM_198880.3(QRICH1):c.1998G>A (p.Thr666=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3373046	NM_198880.3(QRICH1):c.1990A>G (p.Lys664Glu)	QRICH1 (K664E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435345	NM_198880.3(QRICH1):c.1981C>T (p.Pro661Ser)	QRICH1 (P661S)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 2575574	NM_198880.3(QRICH1):c.1965GAA[1] (p.Lys656del)	QRICH1 (K656del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2653819	NM_198880.3(QRICH1):c.1964A>G (p.Lys655Arg)	QRICH1 (K655R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523658	NM_198880.3(QRICH1):c.1953dup (p.Arg652fs)	QRICH1 (R652fs)	Duplication (frameshift variant)	Ververi-Brady syndrome	GPathogenic
Select item 523657	NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter)	QRICH1 (R652*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 1329930	NM_198880.3(QRICH1):c.1896-2A>G	QRICH1	Single nucleotide variant (splice acceptor variant)	Ververi-Brady syndrome	GPathogenic
Select item 1329929	NM_198880.3(QRICH1):c.1884C>G (p.Phe628Leu)	QRICH1 (F628L)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 2603789	NM_198880.3(QRICH1):c.1828G>T (p.Glu610Ter)	QRICH1 (E610*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 929866	NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs)	QRICH1 (E605fs)	Deletion (frameshift variant)	Ververi-Brady syndrome +1 more	GPathogenic
Select item 2579413	NM_198880.3(QRICH1):c.1807G>C (p.Val603Leu)	QRICH1 (V603L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982709	NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)	QRICH1 (V603L)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 1329927	NM_198880.3(QRICH1):c.1787-2A>G	QRICH1	Single nucleotide variant (splice acceptor variant)	Ververi-Brady syndrome +1 more	GPathogenic
Select item 1676508	NM_198880.3(QRICH1):c.1786+1G>A	QRICH1	Single nucleotide variant (splice donor variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 3150336	NM_198880.3(QRICH1):c.1726C>T (p.Arg576Trp)	QRICH1 (R576W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329926	NM_198880.3(QRICH1):c.1720T>G (p.Tyr574Asp)	QRICH1 (Y574D)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 1696477	NM_198880.3(QRICH1):c.1711G>A (p.Asp571Asn)	QRICH1 (D571N)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 3253417	NM_198880.3(QRICH1):c.1671G>A (p.Lys557=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1329925	NM_198880.3(QRICH1):c.1655del (p.Phe552fs)	QRICH1 (F552fs)	Deletion (frameshift variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 1329924	NM_198880.3(QRICH1):c.1649A>G (p.Tyr550Cys)	QRICH1 (Y550C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1329923	NM_198880.3(QRICH1):c.1626del (p.Tyr543fs)	QRICH1 (Y543fs)	Deletion (frameshift variant)	Ververi-Brady syndrome	GPathogenic
Select item 3311941	NM_198880.3(QRICH1):c.1619G>A (p.Gly540Asp)	QRICH1 (G540D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236009	NM_198880.3(QRICH1):c.1618G>C (p.Gly540Arg)	QRICH1 (G540R)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 620666	NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter)	QRICH1 (R536*)	Single nucleotide variant (nonsense)	Ververi-Brady syndrome +1 more	GPathogenic
Select item 3349562	NM_198880.3(QRICH1):c.1597C>T (p.Arg533Trp)	QRICH1 (R533W)	Single nucleotide variant (missense variant)	QRICH1-related disorder	GUncertain significance
Select item 1192535	NM_198880.3(QRICH1):c.1585dup (p.Cys529fs)	QRICH1 (C529fs)	Duplication (frameshift variant)	Ververi-Brady syndrome	GPathogenic
Select item 1329922	NM_198880.3(QRICH1):c.1579G>A (p.Gly527Arg)	QRICH1 (G527R)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 1335523	NM_198880.3(QRICH1):c.1578T>C (p.Tyr526=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1329921	NM_198880.3(QRICH1):c.1531C>T (p.Arg511Ter)	QRICH1 (R511*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3337503	NM_198880.3(QRICH1):c.1517-3C>G	QRICH1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2653820	NM_198880.3(QRICH1):c.1517-8C>T	QRICH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3257214	NM_198880.3(QRICH1):c.1511T>C (p.Ile504Thr)	QRICH1 (I504T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369053	NM_198880.3(QRICH1):c.1485G>C (p.Lys495Asn)	QRICH1 (K495N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653821	NM_198880.3(QRICH1):c.1479A>G (p.Leu493=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254880	NM_198880.3(QRICH1):c.1453T>G (p.Trp485Gly)	QRICH1 (W485G)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 2429264	NM_198880.3(QRICH1):c.1441G>A (p.Val481Ile)	QRICH1 (V481I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507153	NM_198880.3(QRICH1):c.1414T>G (p.Ser472Ala)	QRICH1 (S472A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 584433	NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter)	QRICH1 (Q460*)	Single nucleotide variant (nonsense)	Ververi-Brady syndrome	GPathogenic
Select item 755925	NM_198880.3(QRICH1):c.1362A>G (p.Glu454=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706156	NM_198880.3(QRICH1):c.1355T>C (p.Val452Ala)	QRICH1 (V452A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337504	NM_198880.3(QRICH1):c.1337C>G (p.Ser446Ter)	QRICH1 (S446*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2008780	NM_198880.3(QRICH1):c.1315C>T (p.Gln439Ter)	QRICH1 (Q439*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 801968	NM_198880.3(QRICH1):c.1306C>G (p.Gln436Glu)	QRICH1 (Q436E)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 1329919	NM_198880.3(QRICH1):c.1304A>G (p.Gln435Arg)	QRICH1 (Q435R)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1329918	NM_198880.3(QRICH1):c.1292dup (p.Pro432fs)	QRICH1 (P432fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1307362	NM_198880.3(QRICH1):c.1291A>G (p.Thr431Ala)	QRICH1 (T431A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703119	NM_198880.3(QRICH1):c.1265C>T (p.Pro422Leu)	QRICH1 (P422L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329917	NM_198880.3(QRICH1):c.1258C>T (p.Gln420Ter)	QRICH1 (Q420*)	Single nucleotide variant (nonsense)	Ververi-Brady syndrome	GPathogenic
Select item 1806259	NM_198880.3(QRICH1):c.1245A>G (p.Ile415Met)	QRICH1 (I415M)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome +1 more	GUncertain significance
Select item 3311938	NM_198880.3(QRICH1):c.1244T>C (p.Ile415Thr)	QRICH1 (I415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549789	NM_198880.3(QRICH1):c.1243A>G (p.Ile415Val)	QRICH1 (I415V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627563	NM_198880.3(QRICH1):c.1234del (p.Thr412fs)	QRICH1 (T412fs)	Deletion (frameshift variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 2612815	NM_198880.3(QRICH1):c.1234A>T (p.Thr412Ser)	QRICH1 (T412S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250780	NM_198880.3(QRICH1):c.1227G>A (p.Thr409=)	QRICH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343566	NM_198880.3(QRICH1):c.1214C>T (p.Thr405Met)	QRICH1 (T405M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329916	NM_198880.3(QRICH1):c.1180C>G (p.His394Asp)	QRICH1 (H394D)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 3345786	NM_198880.3(QRICH1):c.1151T>G (p.Phe384Cys)	QRICH1 (F384C)	Single nucleotide variant (missense variant)	QRICH1-related disorder	GUncertain significance
Select item 1186953	NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)	QRICH1 (F384fs)	Microsatellite (frameshift variant)	Ververi-Brady syndrome +2 more	GPathogenic
Select item 801969	NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs)	QRICH1 (L383fs)	Microsatellite (frameshift variant)	Ververi-Brady syndrome	GPathogenic
Select item 964261	NM_198880.3(QRICH1):c.1148dup (p.Phe384fs)	QRICH1 (F384fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3235741	NM_198880.3(QRICH1):c.1147del (p.Leu383fs)	QRICH1 (L383fs)	Deletion (frameshift variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 1329915	NM_198880.3(QRICH1):c.985del (p.His329fs)	QRICH1 (H329fs)	Deletion (frameshift variant)	Ververi-Brady syndrome	GPathogenic
Select item 3311939	NM_198880.3(QRICH1):c.975G>C (p.Gln325His)	QRICH1 (Q325H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329914	NM_198880.3(QRICH1):c.961del (p.Asp321fs)	QRICH1 (D321fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1308422	NM_198880.3(QRICH1):c.955C>T (p.Arg319Trp)	QRICH1 (R319W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254774	NM_198880.3(QRICH1):c.949dup (p.Gln317fs)	QRICH1 (Q317fs)	Duplication (frameshift variant)	Ververi-Brady syndrome	GPathogenic
Select item 1172648	NM_198880.3(QRICH1):c.914dup (p.Gly306fs)	QRICH1 (G306fs)	Duplication (frameshift variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 2442120	NM_198880.3(QRICH1):c.887G>A (p.Ser296Asn)	QRICH1 (S296N)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 1030588	NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)	QRICH1 (P284L)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GConflicting classifications of pathogenicity
Select item 2674595	NM_198880.3(QRICH1):c.845dup (p.Leu282fs)	QRICH1 (L282fs)	Duplication (frameshift variant)	Ververi-Brady syndrome	GPathogenic
Select item 929435	NM_198880.3(QRICH1):c.832_833del (p.Ser278fs)	QRICH1 (S278fs)	Microsatellite (frameshift variant)	Ververi-Brady syndrome +1 more	GPathogenic
Select item 1329913	NM_198880.3(QRICH1):c.823C>T (p.Gln275Ter)	QRICH1 (Q275*)	Single nucleotide variant (nonsense)	Ververi-Brady syndrome	GPathogenic
Select item 989278	NM_198880.3(QRICH1):c.770C>T (p.Ser257Phe)	QRICH1 (S257F)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 1329912	NM_198880.3(QRICH1):c.756G>T (p.Met252Ile)	QRICH1 (M252I)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GLikely pathogenic
Select item 2631521	NM_198880.3(QRICH1):c.743G>A (p.Arg248His)	QRICH1 (R248H)	Single nucleotide variant (missense variant)	QRICH1-related disorder	GUncertain significance
Select item 3046070	NM_198880.3(QRICH1):c.729A>G (p.Gln243=)	QRICH1	Single nucleotide variant (synonymous variant)	QRICH1-related disorder	GLikely benign

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