ClinVar for PubMed (Select 25741868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3911897	NC_000002.12:g.(?_47386572)_(47403408_?)del	EPCAM, LOC129933695 +1 more	Deletion	Lynch syndrome 1	GLikely pathogenic
Select item 3911895	NM_003242.6(TGFBR2):c.1291G>A (p.Glu431Lys)	TGFBR2 (E311K +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GPathogenic
Select item 3911894	NM_004006.3(DMD):c.7623del (p.Ser2542fs)	DMD (S1198fs +6 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911893	NM_030624.3(KLHL15):c.1203C>G (p.Ile401Met)	KLHL15 (I401M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911892	NM_004586.3(RPS6KA3):c.1536del (p.Glu513fs)	RPS6KA3 (E513fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911891	NM_000273.3(GPR143):c.11C>A (p.Pro4Gln)	GPR143 (P4Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3911890	NM_001953.5(TYMP):c.518del (p.Met173fs)	TYMP (M173fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911889	NM_000384.3(APOB):c.3565dup (p.Met1189fs)	APOB (M1189fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3911888	NM_001429.4(EP300):c.4533T>A (p.Asn1511Lys)	EP300 (N1485K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911887	NM_001429.4(EP300):c.1116G>A (p.Met372Ile)	EP300 (M372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911886	NM_001162501.2(TNRC6B):c.1852_1868del (p.Leu618fs)	TNRC6B (L618fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3911885	NM_021096.4(CACNA1I):c.3544C>T (p.Leu1182Phe)	CACNA1I (L1147F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911884	NM_007194.4(CHEK2):c.1152dup (p.Cys385fs)	CHEK2 (C164fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3911883	NM_003325.4(HIRA):c.85G>A (p.Ala29Thr)	HIRA (A29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911882	NM_003325.4(HIRA):c.1015_1018del (p.Asn339fs)	HIRA (N339fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3911881	NM_012293.3(PXDN):c.3790C>T (p.Gln1264Ter)	PXDN (Q1264*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3911880	NM_003906.5(MCM3AP):c.5342dup (p.Asn1781fs)	MCM3AP, MCM3AP-AS1 (N1781fs)	Duplication (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3911879	NM_206965.2(FTCD):c.597C>G (p.Ile199Met)	FTCD (I199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911878	NM_015358.3(MORC3):c.2214T>A (p.Tyr738Ter)	MORC3 (Y667* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3911877	NM_003024.3(ITSN1):c.5053A>C (p.Ile1685Leu)	ITSN1 (I1680L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911876	NM_003024.3(ITSN1):c.154G>A (p.Gly52Arg)	ITSN1 (G52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911875	NM_172107.4(KCNQ2):c.407T>C (p.Val136Ala)	KCNQ2 (V136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911874	NM_001243133.2(NLRP3):c.2087G>C (p.Gly696Ala)	NLRP3 (G696A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911873	NM_000516.7(GNAS):c.748AGC[2] (p.Ser252del)	GNAS (S193del +7 more)	Microsatellite (3 prime UTR variant)	not provided	GLikely pathogenic
Select item 3911872	NM_080425.4(GNAS):c.158del (p.Pro53fs)	GNAS (P53fs)	Deletion (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 3911871	NM_002591.4(PCK1):c.1833_1834del (p.Glu611fs)	PCK1 (E611fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3911870	NM_003859.3(DPM1):c.225del (p.Glu76fs)	DPM1 (E76fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3911869	NM_001281775.3(ZMYND8):c.1572G>A (p.Thr524=)	ZMYND8	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3911868	NM_022095.4(ZNF335):c.3298G>T (p.Glu1100Ter)	ZNF335 (E1100*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3911867	NM_007050.6(PTPRT):c.573del (p.Ala192fs)	PTPRT (A192fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3911866	NM_016436.5(PHF20):c.2056G>A (p.Glu686Lys)	PHF20 (E686K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911865	NM_177990.4(PAK5):c.1089del (p.Lys363fs)	PAK5 (K363fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3911864	NM_002739.5(PRKCG):c.1463T>C (p.Leu488Pro)	PRKCG (L488P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911863	NM_017636.4(TRPM4):c.2752C>T (p.Pro918Ser)	TRPM4 (P382S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911862	NM_001386298.1(CIC):c.4671dup (p.Ser1558fs)	CIC (S1558fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3911861	NM_000540.3(RYR1):c.7822_7835del (p.Met2608fs)	RYR1 (M2608fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911860	NM_002911.4(UPF1):c.884G>A (p.Arg295Gln)	UPF1 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911859	NM_005027.4(PIK3R2):c.2005G>A (p.Val669Ile)	PIK3R2 (V669I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3911858	NM_015692.5(CPAMD8):c.404A>T (p.Asp135Val)	CPAMD8 (D135V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3911857	NM_001127222.2(CACNA1A):c.7424G>A (p.Gly2475Asp)	CACNA1A (G2475D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3911856	NM_004715.5(CTDP1):c.93C>G (p.Arg31=)	CTDP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3911855	NM_001083962.2(TCF4):c.977A>G (p.Lys326Arg)	TCF4 (K110R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911854	NM_001103.4(ACTN2):c.187G>A (p.Glu63Lys)	ACTN2 (E63K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3911853	NM_001079843.3(CASZ1):c.4417C>T (p.His1473Tyr)	CASZ1 (H1473Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911852	NM_001384474.1(LOXHD1):c.1895del (p.Gly632fs)	LOXHD1 (G632fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911851	NM_002805.6(PSMC5):c.959C>A (p.Pro320His)	PSMC5 (P312H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911850	NM_002805.6(PSMC5):c.633T>G (p.Phe211Leu)	PSMC5 (F203L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911849	NM_002401.5(MAP3K3):c.889C>T (p.Arg297Ter)	MAP3K3 (R293* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3911848	NM_001394998.1(TANC2):c.4848_4892del (p.Pro1617_Pro1631del)	TANC2	Deletion	not specified	GUncertain significance
Select item 3911847	NM_018149.6(SMG8):c.-29C>T	SMG8	Single nucleotide variant	not specified	GUncertain significance
Select item 3911846	NM_000088.4(COL1A1):c.2667+5G>T	COL1A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3911845	NM_000023.4(SGCA):c.386-2A>G	SGCA	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3911844	NM_000023.4(SGCA):c.251A>C (p.His84Pro)	SGCA (H84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3911843	NM_000212.3(ITGB3):c.956G>A (p.Gly319Glu)	ITGB3 (G319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911842	NM_002476.2(MYL4):c.547G>T (p.Gly183Cys)	MYL4 (G183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911841	NM_172362.3(KCNH1):c.1501A>G (p.Ile501Val)	KCNH1 (I474V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911840	NM_004247.4(EFTUD2):c.2174A>G (p.Asp725Gly)	EFTUD2 (D690G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3911839	NM_003079.5(SMARCE1):c.372A>G (p.Ile124Met)	SMARCE1 (I124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911838	NM_000228.3(LAMB3):c.678del (p.Val227fs)	LAMB3 (V227fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911837	NM_000458.4(HNF1B):c.232_255del (p.Glu78_Asp85del)	HNF1B	Deletion	not provided	GLikely pathogenic
Select item 3911836	NM_000458.4(HNF1B):c.1397T>C (p.Leu466Pro)	HNF1B (L440P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3911835	NM_000228.3(LAMB3):c.822+2T>G	LAMB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3911834	NM_025179.4(PLXNA2):c.3640-1G>A	PLXNA2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3911833	NM_001042492.3(NF1):c.2750T>G (p.Val917Gly)	NF1 (V917G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3911832	NM_001042492.3(NF1):c.1845+1G>C	NF1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3911831	NM_030952.3(NUAK2):c.1666C>T (p.Gln556Ter)	NUAK2 (Q556*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3911830	NM_001033561.2(PHF12):c.2437C>T (p.Arg813Ter)	LOC125177444, PHF12 (R813*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3911829	NM_005148.4(UNC119):c.698A>T (p.Asp233Val)	UNC119 (D138V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3911828	NM_016239.4(MYO15A):c.4597-1G>A	MYO15A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3911827	NM_030665.4(RAI1):c.5709+3A>G	RAI1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3911826	NM_004278.4(PIGL):c.26_27del (p.Val9fs)	PIGL (V9fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3911825	NM_002470.4(MYH3):c.560_561del (p.Val187fs)	MYH3 (V187fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3911824	NM_017534.6(MYH2):c.30T>G (p.Phe10Leu)	MYH2, MYHAS (F10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911823	NM_017534.6(MYH2):c.1492G>C (p.Val498Leu)	MYH2, MYHAS (V498L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911822	NM_001005273.3(CHD3):c.569G>T (p.Gly190Val)	CHD3 (G190V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911821	NM_001348716.2(KDM6B):c.3688_3690del (p.Ser1230del)	KDM6B, LOC121587574 (S1230del)	Deletion	not specified	GUncertain significance
Select item 3911820	NM_004870.4(MPDU1):c.69C>A (p.Tyr23Ter)	MPDU1, MPDU1-AS1 (Y23*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3911819	NM_000173.7(GP1BA):c.97T>A (p.Cys33Ser)	GP1BA (C33S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3911818	NM_000430.4(PAFAH1B1):c.930del (p.Leu311fs)	PAFAH1B1 (L311fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3911817	NM_001042681.2(RERE):c.2743del (p.Glu915fs)	RERE (E361fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911816	NM_001142864.4(PIEZO1):c.6641T>C (p.Leu2214Pro)	PIEZO1 (L2214P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911815	NM_024519.4(RIPOR1):c.747G>A (p.Trp249Ter)	RIPOR1 (W249* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3911814	NM_004691.5(ATP6V0D1):c.562-2A>T	ATP6V0D1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 3911813	NM_005807.6(PRG4):c.598+1G>T	PRG4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 3911812	NM_002968.3(SALL1):c.1489C>T (p.Gln497Ter)	SALL1 (Q400* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3911811	NM_024675.4(PALB2):c.866_867del (p.Ser288_Leu289insTer)	PALB2	Deletion (nonsense +2 more)	not provided	GLikely pathogenic
Select item 3911810	NM_001357.5(DHX9):c.1133del (p.Leu378fs)	DHX9 (L378fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3911809	NM_001171.6(ABCC6):c.763G>T (p.Glu255Ter)	ABCC6 (E141* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3911808	NM_000488.4(SERPINC1):c.321C>G (p.Asn107Lys)	SERPINC1 (N107K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3911807	NM_016333.4(SRRM2):c.4549_4552dup (p.Gly1518fs)	SRRM2 (G1518fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3911806	NM_001009944.3(PKD1):c.118_124dup (p.Ala42fs)	PKD1 (A42fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3911805	NM_001009944.3(PKD1):c.4241_4247del (p.Trp1414fs)	PKD1 (W1414fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3911804	NM_001009944.3(PKD1):c.4693del (p.Ser1565fs)	PKD1 (S1565fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3911803	NM_000488.4(SERPINC1):c.677C>T (p.Thr226Ile)	SERPINC1 (T154I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3911802	NM_001009944.3(PKD1):c.6172C>T (p.Gln2058Ter)	PKD1 (Q2058*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3911801	NM_001009944.3(PKD1):c.8488_8491del (p.Asp2830fs)	PKD1 (D2830fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3911800	NM_001009944.3(PKD1):c.9044G>A (p.Cys3015Tyr)	PKD1 (C3015Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3911799	NM_001009944.3(PKD1):c.9136del (p.Arg3046fs)	PKD1 (R3046fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3911798	NM_001009944.3(PKD1):c.9379G>A (p.Gly3127Ser)	PKD1 (G3127S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3911797	NM_001009944.3(PKD1):c.10748dup (p.Val3584fs)	PKD1, PKD1-AS1 (V3583fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic

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