ClinVar for Gene (Select 3071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337386	NM_005337.5(NCKAP1L):c.2300G>A (p.Arg767His)	NCKAP1L (R717H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3298771	NM_005337.5(NCKAP1L):c.2456C>T (p.Pro819Leu)	NCKAP1L (P769L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298770	NM_005337.5(NCKAP1L):c.2835G>T (p.Glu945Asp)	NCKAP1L (E895D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298769	NM_005337.5(NCKAP1L):c.58G>T (p.Asp20Tyr)	NCKAP1L (D20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182446	NM_005337.5(NCKAP1L):c.3241A>G (p.Asn1081Asp)	NCKAP1L (N1031D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182432	NM_005337.5(NCKAP1L):c.3052T>C (p.Phe1018Leu)	NCKAP1L (F968L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182413	NM_005337.5(NCKAP1L):c.211A>G (p.Thr71Ala)	NCKAP1L (T71A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182402	NM_005337.5(NCKAP1L):c.1934G>T (p.Arg645Met)	NCKAP1L (R595M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182395	NM_005337.5(NCKAP1L):c.1808A>G (p.Glu603Gly)	NCKAP1L (E553G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025857	NM_005337.5(NCKAP1L):c.3198C>T (p.Ser1066=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023320	NM_005337.5(NCKAP1L):c.2389C>T (p.Leu797=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021763	NM_005337.5(NCKAP1L):c.1421-13G>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020696	NM_005337.5(NCKAP1L):c.2865G>A (p.Val955=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020587	NM_005337.5(NCKAP1L):c.941+20A>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016027	NM_005337.5(NCKAP1L):c.1581C>T (p.Ser527=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008418	NM_005337.5(NCKAP1L):c.1203C>T (p.Asp401=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005665	NM_005337.5(NCKAP1L):c.306+18G>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005168	NM_005337.5(NCKAP1L):c.1302A>G (p.Ala434=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004881	NM_005337.5(NCKAP1L):c.3074-4C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004117	NM_005337.5(NCKAP1L):c.2076T>C (p.His692=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000846	NM_005337.5(NCKAP1L):c.736-12C>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000691	NM_005337.5(NCKAP1L):c.2698+17C>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996522	NM_005337.5(NCKAP1L):c.2112C>T (p.Phe704=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995780	NM_005337.5(NCKAP1L):c.861C>A (p.Gly287=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995510	NM_005337.5(NCKAP1L):c.1758+7A>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993757	NM_005337.5(NCKAP1L):c.1878+13C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991966	NM_005337.5(NCKAP1L):c.1035G>A (p.Arg345=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991192	NM_005337.5(NCKAP1L):c.1170C>T (p.Val390=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989187	NM_005337.5(NCKAP1L):c.2157-4C>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984615	NM_005337.5(NCKAP1L):c.213+18C>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984551	NM_005337.5(NCKAP1L):c.2355C>T (p.Ile785=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982808	NM_005337.5(NCKAP1L):c.272A>G (p.Tyr91Cys)	NCKAP1L (Y91C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982119	NM_005337.5(NCKAP1L):c.3222T>C (p.Thr1074=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979987	NM_005337.5(NCKAP1L):c.2886G>A (p.Leu962=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979574	NM_005337.5(NCKAP1L):c.2664G>A (p.Pro888=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977966	NM_005337.5(NCKAP1L):c.3138G>A (p.Thr1046=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977034	NM_005337.5(NCKAP1L):c.1428T>C (p.Asn476=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976736	NM_005337.5(NCKAP1L):c.2507-15_2507-14del	NCKAP1L	Deletion (intron variant)	not provided	GLikely benign
Select item 2976572	NM_005337.5(NCKAP1L):c.2418C>T (p.Ile806=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975108	NM_005337.5(NCKAP1L):c.103-8C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974942	NM_005337.5(NCKAP1L):c.2025-15C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973799	NM_005337.5(NCKAP1L):c.2605-19C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973751	NM_005337.5(NCKAP1L):c.3003G>A (p.Leu1001=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972977	NM_005337.5(NCKAP1L):c.640C>A (p.Arg214=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972947	NM_005337.5(NCKAP1L):c.1882C>T (p.Leu628=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972801	NM_005337.5(NCKAP1L):c.1938G>A (p.Lys646=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971104	NM_005337.5(NCKAP1L):c.1215A>T (p.Ala405=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968889	NM_005337.5(NCKAP1L):c.2718G>C (p.Lys906Asn)	NCKAP1L (K856N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 72 with autoinflammation +1 more	GUncertain significance
Select item 2966246	NM_005337.5(NCKAP1L):c.2221T>C (p.Leu741=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965822	NM_005337.5(NCKAP1L):c.2862+19T>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964469	NM_005337.5(NCKAP1L):c.2699-17C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963462	NM_005337.5(NCKAP1L):c.2916T>A (p.Ile972=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960567	NM_005337.5(NCKAP1L):c.2698+20A>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959995	NM_005337.5(NCKAP1L):c.1206-19del	NCKAP1L	Deletion (intron variant)	not provided	GLikely benign
Select item 2959485	NM_005337.5(NCKAP1L):c.2370A>C (p.Thr790=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957679	NM_005337.5(NCKAP1L):c.2091C>T (p.Ser697=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919602	NM_005337.5(NCKAP1L):c.506G>T (p.Gly169Val)	NCKAP1L (G119V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914594	NM_005337.5(NCKAP1L):c.2699-8C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2913736	NM_005337.5(NCKAP1L):c.1096-4A>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913363	NM_005337.5(NCKAP1L):c.2512C>T (p.Arg838Trp)	NCKAP1L (R838W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908313	NM_005337.5(NCKAP1L):c.366T>C (p.Asn122=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907077	NM_005337.5(NCKAP1L):c.3348C>T (p.Ala1116=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899104	NM_005337.5(NCKAP1L):c.2466G>C (p.Gly822=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889727	NM_005337.5(NCKAP1L):c.2007C>T (p.Asn669=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882920	NM_005337.5(NCKAP1L):c.506+10G>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879024	NM_005337.5(NCKAP1L):c.998+15A>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877899	NM_005337.5(NCKAP1L):c.3073+11G>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876558	NM_005337.5(NCKAP1L):c.2956+17G>C	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868785	NM_005337.5(NCKAP1L):c.2004G>A (p.Lys668=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866673	NM_005337.5(NCKAP1L):c.1096-18T>C	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859579	NM_005337.5(NCKAP1L):c.2290A>C (p.Arg764=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859578	NM_005337.5(NCKAP1L):c.2138T>G (p.Leu713Arg)	NCKAP1L (L663R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859577	NM_005337.5(NCKAP1L):c.407T>A (p.Val136Glu)	NCKAP1L (V136E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856857	NM_005337.5(NCKAP1L):c.785-20C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850987	NM_005337.5(NCKAP1L):c.1228T>C (p.Leu410=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848352	NM_005337.5(NCKAP1L):c.464T>A (p.Ile155Asn)	NCKAP1L (I105N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847109	NM_005337.5(NCKAP1L):c.1263C>T (p.His421=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845931	NM_005337.5(NCKAP1L):c.2232C>T (p.Val744=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841329	NM_005337.5(NCKAP1L):c.2736G>A (p.Gly912=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840801	NM_005337.5(NCKAP1L):c.3073+20G>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840800	NM_005337.5(NCKAP1L):c.942-10C>T	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837627	NM_005337.5(NCKAP1L):c.942-12G>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831967	NM_005337.5(NCKAP1L):c.1096-6C>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831028	NM_005337.5(NCKAP1L):c.2957-13T>C	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829542	NM_005337.5(NCKAP1L):c.2604+7T>G	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819108	NM_005337.5(NCKAP1L):c.2727C>T (p.Thr909=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816453	NM_005337.5(NCKAP1L):c.849G>A (p.Leu283=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814596	NM_005337.5(NCKAP1L):c.885T>C (p.Arg295=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809921	NM_005337.5(NCKAP1L):c.1033C>A (p.Arg345=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807355	NM_005337.5(NCKAP1L):c.1479+5T>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2806185	NM_005337.5(NCKAP1L):c.998+10G>A	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805254	NM_005337.5(NCKAP1L):c.2535C>A (p.Gly845=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799153	NM_005337.5(NCKAP1L):c.18T>C (p.Ala6=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799152	NM_005337.5(NCKAP1L):c.12A>C (p.Thr4=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794727	NM_005337.5(NCKAP1L):c.1743G>A (p.Glu581=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789001	NM_005337.5(NCKAP1L):c.102+17G>T	LOC130008017, NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785947	NM_005337.5(NCKAP1L):c.1421-6T>C	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785205	NM_005337.5(NCKAP1L):c.2931G>T (p.Val977=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783655	NM_005337.5(NCKAP1L):c.2781+8G>C	NCKAP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778831	NM_005337.5(NCKAP1L):c.1245G>A (p.Arg415=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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