ClinVar for Gene (Select 51199) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244040	NC_000014.8:g.(?_50697895)_(51288774_?)dup	ATL1, CDKL1 +6 more	Duplication	Noonan syndrome 9	GUncertain significance
Select item 3200096	NM_020921.4(NIN):c.960G>C (p.Glu320Asp)	NIN (E320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200095	NM_020921.4(NIN):c.845C>A (p.Thr282Asn)	NIN (T282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200093	NM_020921.4(NIN):c.6097G>T (p.Val2033Leu)	NIN (V1320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200092	NM_020921.4(NIN):c.5988G>C (p.Gln1996His)	NIN (Q1283H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200091	NM_020921.4(NIN):c.5957G>A (p.Cys1986Tyr)	NIN (C1986Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200090	NM_020921.4(NIN):c.5945A>T (p.Gln1982Leu)	NIN (Q1982L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200089	NM_020921.4(NIN):c.5732A>G (p.Glu1911Gly)	NIN (E1911G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200088	NM_020921.4(NIN):c.5413T>C (p.Ser1805Pro)	NIN (S1805P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200087	NM_020921.4(NIN):c.5390A>C (p.Glu1797Ala)	NIN (E1797A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200086	NM_020921.4(NIN):c.5182G>A (p.Asp1728Asn)	LOC126861936, NIN (D1015N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200085	NM_020921.4(NIN):c.4984C>A (p.Leu1662Ile)	NIN (L1662I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200084	NM_020921.4(NIN):c.4867A>G (p.Lys1623Glu)	NIN (K1623E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200083	NM_020921.4(NIN):c.464A>G (p.Tyr155Cys)	NIN (Y155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200081	NM_020921.4(NIN):c.3298C>T (p.Pro1100Ser)	NIN (P1100S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200080	NM_020921.4(NIN):c.3287A>G (p.Gln1096Arg)	NIN (Q1096R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200079	NM_020921.4(NIN):c.2741A>T (p.Gln914Leu)	NIN (Q914L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200078	NM_020921.4(NIN):c.2526A>T (p.Gln842His)	NIN (Q842H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200076	NM_020921.4(NIN):c.1772A>T (p.His591Leu)	NIN (H591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200075	NM_020921.4(NIN):c.1771C>A (p.His591Asn)	NIN (H591N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200074	NM_020921.4(NIN):c.1000G>C (p.Asp334His)	NIN (D334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058610	NM_020921.4(NIN):c.3933C>T (p.Tyr1311=)	NIN	Single nucleotide variant (synonymous variant +1 more)	NIN-related disorder	GLikely benign
Select item 3049449	NM_020921.4(NIN):c.1557C>T (p.Leu519=)	NIN	Single nucleotide variant (synonymous variant)	NIN-related disorder	GLikely benign
Select item 3049331	NM_020921.4(NIN):c.5493C>T (p.Asn1831=)	NIN	Single nucleotide variant (synonymous variant)	NIN-related disorder	GLikely benign
Select item 3047729	NM_020921.4(NIN):c.272C>T (p.Ser91Leu)	NIN (S91L)	Single nucleotide variant (missense variant)	NIN-related disorder	GLikely benign
Select item 3043291	NM_020921.4(NIN):c.4014C>T (p.Ser1338=)	NIN	Single nucleotide variant (synonymous variant +1 more)	NIN-related disorder	GLikely benign
Select item 3022167	NM_020921.4(NIN):c.104A>G (p.Asp35Gly)	LOC105370489, NIN (D35G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021744	NM_020921.4(NIN):c.438C>T (p.His146=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021316	NM_020921.4(NIN):c.1719G>T (p.Lys573Asn)	NIN (K573N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020871	NM_020921.4(NIN):c.3630A>C (p.Leu1210Phe)	NIN (L1210F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020869	NM_020921.4(NIN):c.2728G>A (p.Val910Ile)	NIN (V910I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020611	NM_020921.4(NIN):c.2252C>G (p.Thr751Arg)	NIN (T751R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019900	NM_020921.4(NIN):c.4375A>C (p.Thr1459Pro)	NIN (T1459P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3019614	NM_020921.4(NIN):c.1611A>C (p.Arg537Ser)	NIN (R537S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018544	NM_020921.4(NIN):c.6061G>A (p.Glu2021Lys)	NIN (E1308K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018447	NM_020921.4(NIN):c.6078+3A>G	NIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3016110	NM_020921.4(NIN):c.1409G>A (p.Arg470Gln)	NIN (R470Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015620	NM_020921.4(NIN):c.2852G>A (p.Arg951His)	NIN (R951H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015436	NM_020921.4(NIN):c.3750G>T (p.Leu1250=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012912	NM_020921.4(NIN):c.183+14A>T	LOC105370489, NIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3012850	NM_020921.4(NIN):c.4025G>A (p.Arg1342Gln)	NIN (R1342Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011889	NM_020921.4(NIN):c.2712T>G (p.His904Gln)	NIN (H904Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011663	NM_020921.4(NIN):c.3066G>A (p.Met1022Ile)	NIN (M1022I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011198	NM_020921.4(NIN):c.5302-15A>G	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009374	NM_020921.4(NIN):c.183+20G>A	LOC105370489, LOC130055610 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3009079	NM_020921.4(NIN):c.4861A>C (p.Lys1621Gln)	NIN (K1621Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007027	NM_020921.4(NIN):c.4523A>G (p.Lys1508Arg)	NIN (K1508R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005811	NM_020921.4(NIN):c.2954C>G (p.Ser985Cys)	NIN (S985C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005327	NM_020921.4(NIN):c.1238G>A (p.Arg413Gln)	NIN (R413Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001803	NM_020921.4(NIN):c.3721A>C (p.Ile1241Leu)	NIN (I1241L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2999037	NM_020921.4(NIN):c.130G>A (p.Glu44Lys)	LOC105370489, NIN (E44K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2998924	NM_020921.4(NIN):c.630C>G (p.Ile210Met)	NIN (I210M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997121	NM_020921.4(NIN):c.6258G>A (p.Leu2086=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996085	NM_020921.4(NIN):c.4241G>C (p.Gly1414Ala)	NIN (G1414A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992576	NM_020921.4(NIN):c.4261G>A (p.Glu1421Lys)	NIN (E1421K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991378	NM_020921.4(NIN):c.622G>T (p.Val208Phe)	NIN (V208F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990442	NM_020921.4(NIN):c.5836C>T (p.Leu1946=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990178	NM_020921.4(NIN):c.4289T>C (p.Ile1430Thr)	NIN (I1430T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990001	NM_020921.4(NIN):c.3473C>G (p.Thr1158Arg)	NIN (T1158R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989592	NM_020921.4(NIN):c.3326A>G (p.Asp1109Gly)	NIN (D1109G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988017	NM_020921.4(NIN):c.5474A>T (p.His1825Leu)	NIN (H1825L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987914	NM_020921.4(NIN):c.4459_4461del (p.Lys1487del)	NIN (K1487del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2987267	NM_020921.4(NIN):c.1867T>C (p.Cys623Arg)	NIN (C623R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985350	NM_020921.4(NIN):c.4972C>T (p.Leu1658=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985209	NM_020921.4(NIN):c.5222C>T (p.Ala1741Val)	NIN (A1028V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2984236	NM_020921.4(NIN):c.3825G>A (p.Glu1275=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981174	NM_020921.4(NIN):c.1989C>G (p.His663Gln)	LOC130055602, NIN (H663Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981069	NM_020921.4(NIN):c.4665-14A>G	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980987	NM_020921.4(NIN):c.1082C>T (p.Ala361Val)	NIN (A361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980914	NM_020921.4(NIN):c.4591A>G (p.Thr1531Ala)	NIN (T1531A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979510	NM_020921.4(NIN):c.475+9C>T	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978282	NM_020921.4(NIN):c.5702C>T (p.Thr1901Ile)	NIN (T1901I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978170	NM_020921.4(NIN):c.5629-12T>G	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976037	NM_020921.4(NIN):c.475+10G>C	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974904	NM_020921.4(NIN):c.4238A>T (p.His1413Leu)	NIN (H1413L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974233	NM_020921.4(NIN):c.4713G>T (p.Met1571Ile)	NIN (M1571I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971898	NM_020921.4(NIN):c.5226G>A (p.Thr1742=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970876	NM_020921.4(NIN):c.5554C>T (p.Leu1852Phe)	NIN (L1139F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970774	NM_020921.4(NIN):c.5270T>C (p.Leu1757Ser)	NIN (L1757S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970575	NM_020921.4(NIN):c.1261A>G (p.Lys421Glu)	NIN (K421E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970481	NM_020921.4(NIN):c.672C>T (p.Leu224=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970107	NM_020921.4(NIN):c.184-13T>A	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969407	NM_020921.4(NIN):c.220A>T (p.Ile74Phe)	NIN (I74F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968774	NM_020921.4(NIN):c.475+14G>A	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967959	NM_020921.4(NIN):c.3819C>T (p.Tyr1273=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966006	NM_020921.4(NIN):c.5212C>A (p.His1738Asn)	NIN (H1025N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964876	NM_020921.4(NIN):c.5115T>A (p.Val1705=)	LOC126861936, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964735	NM_020921.4(NIN):c.1989C>T (p.His663=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964198	NM_020921.4(NIN):c.1260-6T>C	NIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2963927	NM_020921.4(NIN):c.4452C>T (p.His1484=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962308	NM_020921.4(NIN):c.5449-13C>T	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961902	NM_020921.4(NIN):c.5064+11G>A	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961810	NM_020921.4(NIN):c.885C>T (p.Phe295=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961623	NM_020921.4(NIN):c.3285A>G (p.Leu1095=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960756	NM_020921.4(NIN):c.6079-20T>C	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960617	NM_020921.4(NIN):c.552A>C (p.Glu184Asp)	NIN (E184D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959892	NM_020921.4(NIN):c.1434+13T>C	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959494	NM_020921.4(NIN):c.1901G>A (p.Arg634His)	NIN (R634H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2958221	NM_020921.4(NIN):c.2595C>T (p.Leu865=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958215	NM_020921.4(NIN):c.435+15A>G	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign

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