ClinVar (all) for Orgtrack (Select 507439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248636	NM_014140.4(SMARCAL1):c.2070+5G>A	SMARCAL1	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 3248635	NM_001205019.2(GK):c.542G>A (p.Trp181Ter)	GK (W181* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn glycerol kinase deficiency	GPathogenic
Select item 3248634	NM_144988.4(ALG14):c.133T>C (p.Ser45Pro)	ALG14, LOC129930989 (S45P)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3248633	NM_001128.6(AP1G1):c.919-1G>T	AP1G1	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic
Select item 3248632	NM_000338.3(SLC12A1):c.2873+6T>G	SLC12A1	Single nucleotide variant (intron variant)	See cases	GLikely pathogenic
Select item 3248631	NM_000338.3(SLC12A1):c.548T>A (p.Val183Glu)	SLC12A1 (V183E)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 3248630	NM_001374828.1(ARID1B):c.6362_6363del (p.Glu2121fs)	ARID1B (E1288fs +3 more)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3248629	NM_001287491.2(TET3):c.1993del (p.Ala665fs)	TET3 (A572fs +1 more)	Deletion (frameshift variant)	Beck-Fahrner syndrome	GLikely pathogenic
Select item 3062178	NM_002576.5(PAK1):c.732G>T (p.Lys244Asn)	PAK1 (K146N +3 more)	Single nucleotide variant (missense variant +2 more)	See cases	GUncertain significance
Select item 3062177	NM_003128.3(SPTBN1):c.5474A>G (p.His1825Arg)	SPTBN1 (H1812R +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3062176	NM_007192.4(SUPT16H):c.1114A>G (p.Lys372Glu)	SUPT16H (K372E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3062175	NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)	F8 (G1769E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3062174	NM_000275.3(OCA2):c.890+5G>A	OCA2	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 3062173	NM_000834.5(GRIN2B):c.1126-1G>T	GRIN2B	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic
Select item 3062172	NM_181552.4(CUX1):c.3725_3730del (p.His1242_Gln1243del)	CUX1	Deletion (inframe_deletion +1 more)	See cases	GUncertain significance
Select item 3062171	NM_005862.3(STAG1):c.2099C>T (p.Ser700Phe)	STAG1 (S700F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3062170	NM_002816.5(PSMD12):c.662A>C (p.Lys221Thr)	PSMD12 (K162T +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3062169	NM_006035.4(CDC42BPB):c.4661G>A (p.Arg1554Lys)	CDC42BPB (R1528K +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3062168	NM_182641.4(BPTF):c.8649del (p.Ser2883fs)	BPTF (S2866fs +1 more)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 3062167	NM_006946.4(SPTBN2):c.1709T>C (p.Leu570Pro)	SPTBN2 (L570P +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3062166	NM_017780.4(CHD7):c.4132G>C (p.Ala1378Pro)	CHD7 (A1378P)	Single nucleotide variant (missense variant +1 more)	See cases	GPathogenic
Select item 2806272	NM_015570.4(AUTS2):c.2617A>G (p.Thr873Ala)	AUTS2 (T873A +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2798910	NM_138927.4(SON):c.800C>T (p.Ser267Leu)	SON (S267L)	Single nucleotide variant (missense variant +2 more)	See cases +1 more	GUncertain significance
Select item 2504167	NM_004187.5(KDM5C):c.4583C>T (p.Pro1528Leu)	KDM5C (P1525L +2 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2504166	NM_001134831.2(AHI1):c.3437A>G (p.Asn1146Ser)	AHI1 (N1146S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504165	NM_018489.3(ASH1L):c.8522G>A (p.Arg2841His)	ASH1L (R2841H +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504164	NM_031310.3(PLVAP):c.670_676del (p.Leu224fs)	PLVAP (L224fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 2504163	NM_016284.5(CNOT1):c.4434+196dup	CNOT1 (L1544fs)	Duplication (frameshift variant +1 more)	See cases	GUncertain significance
Select item 2504162	NM_001287491.2(TET3):c.1606C>T (p.Arg536Cys)	TET3 (R401C +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504161	NM_001001344.3(ATP2B3):c.209-17T>A	ATP2B3	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2504160	NM_139058.3(ARX):c.96C>G (p.Ile32Met)	ARX (I32M)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504159	NM_002240.5(KCNJ6):c.353G>T (p.Arg118Leu)	KCNJ6, KCNJ6-AS1 (R118L)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GUncertain significance
Select item 2504158	NM_017654.4(SAMD9):c.2195T>G (p.Ile732Ser)	SAMD9 (I732S)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2504157	NM_004006.3(DMD):c.7474_7477dup (p.Ile2493fs)	DMD (I1149fs +6 more)	Duplication (frameshift variant)	See cases	GPathogenic
Select item 2504156	NM_006035.4(CDC42BPB):c.3593A>C (p.Asn1198Thr)	CDC42BPB (N1172T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504155	NM_015335.5(MED13L):c.5233C>G (p.Gln1745Glu)	MED13L (Q1745E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504154	NM_001348323.3(TRIP12):c.1754A>T (p.Asp585Val)	TRIP12 (D240V +4 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504153	NM_001369268.1(ACAN):c.6434C>T (p.Ser2145Phe)	ACAN (S2145F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504152	NM_020754.4(ARHGAP31):c.461C>T (p.Ala154Val)	ARHGAP31 (A154V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504151	NM_005121.3(MED13):c.4322G>C (p.Gly1441Ala)	MED13 (G1441A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504150	NM_004972.4(JAK2):c.226+1G>T	INSL6, JAK2	Single nucleotide variant (splice donor variant)	See cases	GLikely pathogenic
Select item 2504149	NM_001122955.4(BSCL2):c.1116del (p.Glu373fs)	HNRNPUL2-BSCL2, BSCL2 (E309fs +3 more)	Deletion (non-coding transcript variant +1 more)	See cases	GUncertain significance
Select item 2504148	NM_000271.5(NPC1):c.2604+4A>G	NPC1	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2504147	NM_015378.4(VPS13D):c.196C>T (p.Leu66Phe)	VPS13D (L66F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504146	NM_020738.4(KIDINS220):c.1598T>G (p.Leu533Trp)	KIDINS220 (L491W +2 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2504145	NM_001205019.2(GK):c.55G>C (p.Gly19Arg)	GK (G19R)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GUncertain significance
Select item 2504144	NM_031372.4(HNRNPDL):c.136G>C (p.Ala46Pro)	HNRNPDL (A46P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2504143	NM_001386298.1(CIC):c.2996G>A (p.Gly999Glu)	CIC (G90E +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504142	NM_016642.4(SPTBN5):c.6508C>T (p.Gln2170Ter)	SPTBN5 (Q2170*)	Single nucleotide variant (nonsense)	See cases	GUncertain significance
Select item 2504141	NM_016642.4(SPTBN5):c.9307G>A (p.Glu3103Lys)	SPTBN5 (E3103K)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504140	NM_001844.5(COL2A1):c.4238del (p.Ile1413fs)	COL2A1 (I1344fs +1 more)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 2504139	NM_001242896.3(DEPDC5):c.652G>T (p.Val218Leu)	DEPDC5 (V190L +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2504138	NM_001375524.1(TRRAP):c.5722G>A (p.Val1908Ile)	TRRAP (V1883I +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2504137	NM_001394998.1(TANC2):c.1687C>T (p.Arg563Trp)	TANC2 (R489W +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504136	NM_015557.3(CHD5):c.719G>T (p.Arg240Leu)	CHD5 (R240L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504135	NM_017635.5(KMT5B):c.1445T>G (p.Val482Gly)	KMT5B (V242G +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504134	NM_004855.5(PIGB):c.25G>A (p.Gly9Arg)	LOC130057104, PIGB (G9R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504133	NM_197968.4(ZMYM2):c.1798C>T (p.Pro600Ser)	ZMYM2 (P513S +2 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2504132	NM_001375524.1(TRRAP):c.10390G>T (p.Ala3464Ser)	TRRAP (A3421S +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504131	NM_182931.3(KMT2E):c.4984G>C (p.Val1662Leu)	KMT2E (V1620L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2504130	NM_000334.4(SCN4A):c.916T>C (p.Trp306Arg)	SCN4A (W306R)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2504129	NM_015690.5(STK36):c.454A>G (p.Thr152Ala)	STK36 (T152A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504128	NM_018026.4(PACS1):c.2348C>A (p.Pro783His)	PACS1 (P783H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504127	NM_014712.3(SETD1A):c.4913G>T (p.Cys1638Phe)	SETD1A (C1638F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504126	NM_000937.5(POLR2A):c.3626C>G (p.Pro1209Arg)	POLR2A (P1209R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504125	NM_001042492.3(NF1):c.2121del (p.Met707fs)	NF1 (M707fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 2504124	NM_013275.6(ANKRD11):c.7094C>T (p.Pro2365Leu)	ANKRD11 (P2365L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504123	NM_015690.5(STK36):c.365T>C (p.Leu122Pro)	STK36 (L122P)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2430370	NM_001386298.1(CIC):c.6915C>A (p.Asn2305Lys)	CIC (N1395K +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430369	NM_000260.4(MYO7A):c.140G>A (p.Trp47Ter)	MYO7A (W36* +1 more)	Single nucleotide variant (nonsense)	See cases	GPathogenic
Select item 2430368	NM_020338.4(ZMIZ1):c.569A>G (p.Asn190Ser)	ZMIZ1 (N190S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2430367	NM_006565.4(CTCF):c.437G>A (p.Gly146Asp)	CTCF (G146D)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2430366	NM_057175.5(NAA15):c.464C>G (p.Ala155Gly)	NAA15 (A155G)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430365	NM_001112741.2(KCNC1):c.1558C>T (p.Pro520Ser)	KCNC1 (P520S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430364	NM_004239.4(TRIP11):c.5408T>G (p.Leu1803Ter)	TRIP11 (L1802* +1 more)	Single nucleotide variant (nonsense)	See cases	GPathogenic
Select item 2430363	NM_006035.4(CDC42BPB):c.175+5G>A	CDC42BPB	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2430362	NM_000088.4(COL1A1):c.3500del (p.Pro1167fs)	COL1A1 (P1167fs)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 2430361	NM_138615.3(DHX30):c.2929+2T>C	DHX30	Single nucleotide variant (splice donor variant)	See cases	GLikely pathogenic
Select item 2430360	NM_001655.5(ARCN1):c.862C>T (p.Arg288Ter)	ARCN1 (R200* +1 more)	Single nucleotide variant (nonsense)	See cases	GPathogenic
Select item 2430359	NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)	AUTS2 (G132fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 2430358	NM_005045.4(RELN):c.1159G>T (p.Asp387Tyr)	RELN (D387Y)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430357	NM_005045.4(RELN):c.7491-18C>T	RELN	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2430356	NM_001206999.2(CIT):c.5279A>C (p.Asn1760Thr)	CIT (N1718T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430355	NM_015335.5(MED13L):c.787G>A (p.Asp263Asn)	MED13L (D263N)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430354	NM_001375524.1(TRRAP):c.4087G>A (p.Val1363Ile)	TRRAP (V1363I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430353	NM_002335.4(LRP5):c.3082G>A (p.Asp1028Asn)	LRP5 (D1028N +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430352	NM_001046.3(SLC12A2):c.653T>G (p.Met218Arg)	SLC12A2 (M218R)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2430351	NM_017739.4(POMGNT1):c.1838G>A (p.Arg613Lys)	POMGNT1, TSPAN1 (R470K +2 more)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 2430350	NM_001369268.1(ACAN):c.1733-1G>C	ACAN	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic
Select item 2430349	NM_000044.6(AR):c.2384_2385del (p.Phe795fs)	AR (F263fs +1 more)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 2430348	NM_000044.6(AR):c.2561C>G (p.Ser854Ter)	AR (S322* +1 more)	Single nucleotide variant (nonsense)	See cases	GPathogenic
Select item 2430347	NM_016373.4(WWOX):c.163G>C (p.Val55Leu)	WWOX (V55L)	Single nucleotide variant (missense variant +2 more)	See cases	GUncertain significance
Select item 2430346	NM_000316.3(PTH1R):c.1049+6T>A	PTH1R	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2430345	NM_031407.7(HUWE1):c.2281C>T (p.Arg761Cys)	HUWE1 (R761C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2430344	NM_001190737.2(NFIB):c.389_399del (p.Leu130fs)	NFIB (L121fs +6 more)	Deletion (frameshift variant +1 more)	See cases	GLikely pathogenic
Select item 2430343	NM_017934.7(PHIP):c.2180A>T (p.Glu727Val)	PHIP (E727V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430342	NM_001134407.3(GRIN2A):c.1270C>A (p.Pro424Thr)	GRIN2A (P424T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430341	NM_001256071.3(RNF213):c.12050G>A (p.Cys4017Tyr)	RNF213, RNF213-AS1 (C4017Y +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GLikely pathogenic
Select item 2430340	NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)	ENG (S461N +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 2430339	NM_001145358.2(SIN3A):c.1407+4A>G	SIN3A	Single nucleotide variant (intron variant)	See cases	GUncertain significance

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