ClinVar for Gene (Select 58986) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	ANTKMT, ARHGDIG +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	Epilepsy +2 more	GUncertain significance
Select item 3211733	NM_021259.3(PGAP6):c.996C>A (p.Ser332Arg)	PGAP6 (S332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211732	NM_021259.3(PGAP6):c.968A>G (p.Asn323Ser)	PGAP6 (N323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211731	NM_021259.3(PGAP6):c.94G>A (p.Ala32Thr)	PGAP6 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211730	NM_021259.3(PGAP6):c.922G>A (p.Val308Met)	PGAP6 (V308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211729	NM_021259.3(PGAP6):c.91C>T (p.Pro31Ser)	PGAP6 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211728	NM_021259.3(PGAP6):c.895G>A (p.Ala299Thr)	PGAP6 (A299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211727	NM_021259.3(PGAP6):c.80C>T (p.Ala27Val)	PGAP6 (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211726	NM_021259.3(PGAP6):c.778G>A (p.Gly260Ser)	PGAP6 (G260S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211725	NM_021259.3(PGAP6):c.763G>A (p.Val255Met)	PGAP6 (V255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211724	NM_021259.3(PGAP6):c.753C>A (p.Asn251Lys)	PGAP6 (N251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211723	NM_021259.3(PGAP6):c.728T>C (p.Val243Ala)	PGAP6 (V243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211722	NM_021259.3(PGAP6):c.62T>C (p.Leu21Pro)	PGAP6 (L21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211721	NM_021259.3(PGAP6):c.614T>C (p.Leu205Pro)	PGAP6 (L205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211720	NM_021259.3(PGAP6):c.581T>C (p.Met194Thr)	PGAP6 (M194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211719	NM_021259.3(PGAP6):c.559C>T (p.Arg187Trp)	PGAP6 (R187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211718	NM_021259.3(PGAP6):c.525T>G (p.Cys175Trp)	PGAP6 (C175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211717	NM_021259.3(PGAP6):c.478C>G (p.Pro160Ala)	PGAP6 (P160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211716	NM_021259.3(PGAP6):c.443C>T (p.Pro148Leu)	PGAP6 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211715	NM_021259.3(PGAP6):c.427G>A (p.Val143Ile)	PGAP6 (V143I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211714	NM_021259.3(PGAP6):c.417C>G (p.Ser139Arg)	PGAP6 (S139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211713	NM_021259.3(PGAP6):c.362C>G (p.Thr121Ser)	PGAP6 (T121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211712	NM_021259.3(PGAP6):c.2291G>C (p.Arg764Pro)	PGAP6 (R764P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211711	NM_021259.3(PGAP6):c.226G>C (p.Ala76Pro)	PGAP6 (A76P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211710	NM_021259.3(PGAP6):c.2249C>T (p.Ser750Leu)	PGAP6 (S750L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211709	NM_021259.3(PGAP6):c.2236C>T (p.Pro746Ser)	PGAP6 (P746S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211708	NM_021259.3(PGAP6):c.2228C>T (p.Pro743Leu)	PGAP6 (P743L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211707	NM_021259.3(PGAP6):c.2152T>C (p.Tyr718His)	PGAP6 (Y718H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211706	NM_021259.3(PGAP6):c.2116A>T (p.Ile706Phe)	PGAP6 (I706F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211705	NM_021259.3(PGAP6):c.2101A>G (p.Met701Val)	PGAP6 (M701V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211704	NM_021259.3(PGAP6):c.2095G>A (p.Val699Ile)	PGAP6 (V699I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211703	NM_021259.3(PGAP6):c.2092G>A (p.Gly698Ser)	PGAP6 (G698S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211702	NM_021259.3(PGAP6):c.205C>T (p.Arg69Cys)	PGAP6 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211701	NM_021259.3(PGAP6):c.2042G>A (p.Arg681His)	PGAP6 (R681H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211700	NM_021259.3(PGAP6):c.2032G>A (p.Gly678Arg)	PGAP6 (G678R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211699	NM_021259.3(PGAP6):c.2016G>A (p.Met672Ile)	PGAP6 (M672I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211698	NM_021259.3(PGAP6):c.2006T>A (p.Met669Lys)	PGAP6 (M669K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211697	NM_021259.3(PGAP6):c.2003T>G (p.Ile668Ser)	PGAP6 (I668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211696	NM_021259.3(PGAP6):c.1857G>T (p.Trp619Cys)	PGAP6 (W619C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211695	NM_021259.3(PGAP6):c.1828G>A (p.Asp610Asn)	PGAP6 (D610N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211694	NM_021259.3(PGAP6):c.1771G>A (p.Asp591Asn)	PGAP6 (D591N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211692	NM_021259.3(PGAP6):c.1760A>G (p.Tyr587Cys)	PGAP6 (Y587C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211691	NM_021259.3(PGAP6):c.1705T>C (p.Phe569Leu)	PGAP6 (F569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211690	NM_021259.3(PGAP6):c.1703G>T (p.Arg568Leu)	PGAP6 (R568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211689	NM_021259.3(PGAP6):c.1703G>A (p.Arg568Gln)	PGAP6 (R568Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211688	NM_021259.3(PGAP6):c.1697T>C (p.Val566Ala)	PGAP6 (V566A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211687	NM_021259.3(PGAP6):c.1636G>A (p.Ala546Thr)	PGAP6 (A546T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211686	NM_021259.3(PGAP6):c.1634G>C (p.Arg545Thr)	PGAP6 (R545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211685	NM_021259.3(PGAP6):c.1619C>T (p.Thr540Met)	PGAP6 (T540M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211684	NM_021259.3(PGAP6):c.158C>T (p.Pro53Leu)	PGAP6 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211683	NM_021259.3(PGAP6):c.1582C>T (p.Arg528Cys)	PGAP6 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211682	NM_021259.3(PGAP6):c.1535G>A (p.Arg512His)	PGAP6 (R512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211681	NM_021259.3(PGAP6):c.1372A>G (p.Ile458Val)	PGAP6 (I458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211680	NM_021259.3(PGAP6):c.1348G>A (p.Ala450Thr)	PGAP6 (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211679	NM_021259.3(PGAP6):c.1321T>C (p.Phe441Leu)	PGAP6 (F441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211678	NM_021259.3(PGAP6):c.1309A>G (p.Thr437Ala)	PGAP6 (T437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211677	NM_021259.3(PGAP6):c.1298C>T (p.Ser433Leu)	PGAP6 (S433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211676	NM_021259.3(PGAP6):c.1274C>T (p.Ser425Leu)	PGAP6 (S425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211675	NM_021259.3(PGAP6):c.1256C>T (p.Ala419Val)	PGAP6 (A419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211674	NM_021259.3(PGAP6):c.1249G>A (p.Val417Ile)	PGAP6 (V417I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211672	NM_021259.3(PGAP6):c.1193G>A (p.Gly398Asp)	PGAP6 (G398D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211671	NM_021259.3(PGAP6):c.1174A>G (p.Thr392Ala)	PGAP6 (T392A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211670	NM_021259.3(PGAP6):c.1166G>A (p.Arg389His)	PGAP6 (R389H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211669	NM_021259.3(PGAP6):c.1124C>T (p.Ser375Leu)	PGAP6 (S375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211668	NM_021259.3(PGAP6):c.1078G>A (p.Asp360Asn)	PGAP6 (D360N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211667	NM_021259.3(PGAP6):c.1070C>T (p.Thr357Met)	PGAP6 (T357M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211666	NM_021259.3(PGAP6):c.1064C>G (p.Pro355Arg)	PGAP6 (P355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211665	NM_021259.3(PGAP6):c.1041C>A (p.Ser347Arg)	PGAP6 (S347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920807	NM_021259.3(PGAP6):c.1139C>T (p.Ser380Leu)	PGAP6 (S380L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	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 2645789	NM_021259.3(PGAP6):c.1059C>T (p.Asn353=)	PGAP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645788	NM_021259.3(PGAP6):c.2218C>A (p.Pro740Thr)	PGAP6 (P740T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609417	NM_021259.3(PGAP6):c.1981C>T (p.Pro661Ser)	PGAP6 (P661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590064	NM_021259.3(PGAP6):c.298G>A (p.Val100Met)	PGAP6 (V100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588969	NM_021259.3(PGAP6):c.1282C>T (p.Leu428Phe)	PGAP6 (L428F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556215	NM_021259.3(PGAP6):c.899T>C (p.Leu300Pro)	PGAP6 (L300P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551892	NM_021259.3(PGAP6):c.833T>G (p.Leu278Arg)	PGAP6 (L278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539765	NM_021259.3(PGAP6):c.1091T>A (p.Val364Glu)	PGAP6 (V364E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535330	NM_021259.3(PGAP6):c.499G>A (p.Glu167Lys)	PGAP6 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520847	NM_021259.3(PGAP6):c.757C>G (p.Gln253Glu)	PGAP6 (Q253E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519600	NM_021259.3(PGAP6):c.797G>A (p.Arg266His)	PGAP6 (R266H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517995	NM_021259.3(PGAP6):c.1883T>A (p.Leu628His)	PGAP6 (L628H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513138	NM_021259.3(PGAP6):c.23C>T (p.Thr8Ile)	PGAP6 (T8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509179	NM_021259.3(PGAP6):c.1213C>T (p.Arg405Trp)	PGAP6 (R405W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508128	NM_021259.3(PGAP6):c.1879C>T (p.Arg627Trp)	PGAP6 (R627W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496532	NM_021259.3(PGAP6):c.492G>T (p.Gln164His)	PGAP6 (Q164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484461	NM_021259.3(PGAP6):c.557C>T (p.Thr186Met)	PGAP6 (T186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484356	NM_021259.3(PGAP6):c.211C>T (p.Arg71Cys)	PGAP6 (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483814	NM_021259.3(PGAP6):c.469G>A (p.Ala157Thr)	PGAP6 (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478978	NM_021259.3(PGAP6):c.1136G>A (p.Cys379Tyr)	PGAP6 (C379Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475541	NM_021259.3(PGAP6):c.10G>T (p.Ala4Ser)	PGAP6 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470536	NM_021259.3(PGAP6):c.395C>T (p.Pro132Leu)	PGAP6 (P132L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464520	NM_021259.3(PGAP6):c.206G>A (p.Arg69His)	PGAP6 (R69H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461467	NM_021259.3(PGAP6):c.1936A>G (p.Met646Val)	PGAP6 (M646V)	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	ANTKMT, ARHGDIG +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

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