ClinVar for Gene (Select 117166) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 125

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333078	NM_053284.3(WFIKKN1):c.1010C>T (p.Ala337Val)	WFIKKN1 (A337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333077	NM_053284.3(WFIKKN1):c.334C>T (p.Pro112Ser)	WFIKKN1 (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333076	NM_053284.3(WFIKKN1):c.1561C>T (p.Arg521Cys)	WFIKKN1 (R521C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333075	NM_053284.3(WFIKKN1):c.611G>C (p.Ser204Thr)	WFIKKN1 (S204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333073	NM_053284.3(WFIKKN1):c.1294C>A (p.Arg432Ser)	WFIKKN1 (R432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333072	NM_053284.3(WFIKKN1):c.1238G>A (p.Arg413His)	WFIKKN1 (R413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333071	NM_053284.3(WFIKKN1):c.1633C>G (p.Arg545Gly)	WFIKKN1 (R545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333070	NM_053284.3(WFIKKN1):c.962C>T (p.Pro321Leu)	WFIKKN1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333069	NM_053284.3(WFIKKN1):c.1366C>T (p.Arg456Cys)	WFIKKN1 (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3190501	NM_053284.3(WFIKKN1):c.974G>T (p.Gly325Val)	WFIKKN1 (G325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190500	NM_053284.3(WFIKKN1):c.94G>A (p.Val32Met)	WFIKKN1 (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190499	NM_053284.3(WFIKKN1):c.779T>G (p.Leu260Arg)	WFIKKN1 (L260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190498	NM_053284.3(WFIKKN1):c.73G>C (p.Gly25Arg)	WFIKKN1 (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190496	NM_053284.3(WFIKKN1):c.463G>A (p.Val155Met)	WFIKKN1 (V155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190495	NM_053284.3(WFIKKN1):c.445G>A (p.Gly149Ser)	WFIKKN1 (G149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190494	NM_053284.3(WFIKKN1):c.43C>T (p.Arg15Trp)	WFIKKN1 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190493	NM_053284.3(WFIKKN1):c.269C>T (p.Ala90Val)	WFIKKN1 (A90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190492	NM_053284.3(WFIKKN1):c.257C>T (p.Ala86Val)	WFIKKN1 (A86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190491	NM_053284.3(WFIKKN1):c.16C>A (p.Pro6Thr)	WFIKKN1 (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190490	NM_053284.3(WFIKKN1):c.1624C>G (p.Leu542Val)	WFIKKN1 (L542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190489	NM_053284.3(WFIKKN1):c.161G>A (p.Ser54Asn)	WFIKKN1 (S54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190488	NM_053284.3(WFIKKN1):c.1604T>C (p.Leu535Pro)	WFIKKN1 (L535P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190486	NM_053284.3(WFIKKN1):c.1204C>T (p.Arg402Cys)	WFIKKN1 (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190485	NM_053284.3(WFIKKN1):c.1177G>A (p.Glu393Lys)	WFIKKN1 (E393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190484	NM_053284.3(WFIKKN1):c.1018G>A (p.Gly340Ser)	WFIKKN1 (G340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645834	NM_053284.3(WFIKKN1):c.429C>G (p.Ala143=)	WFIKKN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617717	NM_053284.3(WFIKKN1):c.460A>C (p.Ile154Leu)	WFIKKN1 (I154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609301	NM_053284.3(WFIKKN1):c.1090G>C (p.Val364Leu)	WFIKKN1 (V364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599826	NM_053284.3(WFIKKN1):c.263C>T (p.Thr88Met)	WFIKKN1 (T88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567553	NM_053284.3(WFIKKN1):c.1416C>G (p.Phe472Leu)	WFIKKN1 (F472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543483	NM_053284.3(WFIKKN1):c.1564G>A (p.Ala522Thr)	WFIKKN1 (A522T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538509	NM_053284.3(WFIKKN1):c.235C>T (p.Arg79Cys)	WFIKKN1 (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536382	NM_053284.3(WFIKKN1):c.130G>A (p.Asp44Asn)	WFIKKN1 (D44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526329	NM_053284.3(WFIKKN1):c.107A>G (p.Gln36Arg)	WFIKKN1 (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523187	NM_053284.3(WFIKKN1):c.1357G>A (p.Gly453Ser)	WFIKKN1 (G453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476532	NM_053284.3(WFIKKN1):c.1561C>G (p.Arg521Gly)	WFIKKN1 (R521G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475444	NM_053284.3(WFIKKN1):c.1318C>T (p.Arg440Trp)	WFIKKN1 (R440W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456655	NM_053284.3(WFIKKN1):c.328G>A (p.Gly110Arg)	WFIKKN1 (G110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2411085	NM_053284.3(WFIKKN1):c.622G>A (p.Asp208Asn)	WFIKKN1 (D208N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407250	NM_053284.3(WFIKKN1):c.966G>T (p.Gln322His)	WFIKKN1 (Q322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404708	NM_053284.3(WFIKKN1):c.1262G>A (p.Arg421His)	WFIKKN1 (R421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390738	NM_053284.3(WFIKKN1):c.914C>T (p.Ala305Val)	WFIKKN1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383379	NM_053284.3(WFIKKN1):c.1522C>T (p.Arg508Cys)	WFIKKN1 (R508C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378232	NM_053284.3(WFIKKN1):c.503C>T (p.Pro168Leu)	WFIKKN1 (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344032	NM_053284.3(WFIKKN1):c.244G>A (p.Gly82Ser)	WFIKKN1 (G82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343005	NM_053284.3(WFIKKN1):c.154G>C (p.Glu52Gln)	WFIKKN1 (E52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313611	NM_053284.3(WFIKKN1):c.1523G>A (p.Arg508His)	WFIKKN1 (R508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307482	NM_053284.3(WFIKKN1):c.1579C>T (p.Arg527Cys)	WFIKKN1 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297609	NM_053284.3(WFIKKN1):c.1106G>C (p.Arg369Pro)	WFIKKN1 (R369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292498	NM_053284.3(WFIKKN1):c.1237C>G (p.Arg413Gly)	WFIKKN1 (R413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281935	NM_053284.3(WFIKKN1):c.245G>T (p.Gly82Val)	WFIKKN1 (G82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281127	NM_053284.3(WFIKKN1):c.1267C>T (p.Arg423Trp)	WFIKKN1 (R423W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275606	NM_053284.3(WFIKKN1):c.1295G>A (p.Arg432His)	WFIKKN1 (R432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274302	NM_053284.3(WFIKKN1):c.1187G>A (p.Gly396Asp)	WFIKKN1 (G396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271316	NM_053284.3(WFIKKN1):c.995G>A (p.Arg332His)	WFIKKN1 (R332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261225	NM_053284.3(WFIKKN1):c.491C>T (p.Pro164Leu)	WFIKKN1 (P164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251170	NM_053284.3(WFIKKN1):c.1016G>A (p.Arg339His)	WFIKKN1 (R339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235467	NM_053284.3(WFIKKN1):c.7G>A (p.Ala3Thr)	WFIKKN1 (A3T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223573	NM_053284.3(WFIKKN1):c.516G>C (p.Glu172Asp)	WFIKKN1 (E172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220200	NM_053284.3(WFIKKN1):c.1036G>A (p.Ala346Thr)	WFIKKN1 (A346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209397	NM_053284.3(WFIKKN1):c.1404G>T (p.Met468Ile)	WFIKKN1 (M468I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 583884	NC_000016.10:g.(?_582883)_(648190_?)del	LOC100287175, LOC121530607 +18 more	Deletion	Epilepsy	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2