ClinVar for Gene (Select 80216) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367191	NM_025144.4(ALPK1):c.830C>T (p.Ser277Phe)	ALPK1 (S199F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	GLikely pathogenic
Select item 3346015	NM_025144.4(ALPK1):c.1570G>A (p.Gly524Ser)	ALPK1 (G446S +1 more)	Single nucleotide variant (missense variant)	ALPK1-related disorder	GUncertain significance
Select item 3344271	NM_025144.4(ALPK1):c.2243T>C (p.Val748Ala)	ALPK1 (V670A +1 more)	Single nucleotide variant (missense variant)	ALPK1-related disorder	GUncertain significance
Select item 3288359	NM_025144.4(ALPK1):c.3606G>C (p.Gln1202His)	ALPK1 (Q1202H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288355	NM_025144.4(ALPK1):c.700G>C (p.Gly234Arg)	ALPK1 (G234R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288352	NM_025144.4(ALPK1):c.3613T>C (p.Phe1205Leu)	ALPK1 (F1127L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288345	NM_025144.4(ALPK1):c.3228G>C (p.Trp1076Cys)	ALPK1 (W998C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246714	NC_000004.11:g.(?_113332963)_(113362366_?)dup	ALPK1	Duplication	not provided	GUncertain significance
Select item 3246713	NC_000004.11:g.(?_113298934)_(114302627_?)dup	ALPK1, ANK2 +8 more	Duplication	not provided	GUncertain significance
Select item 3113466	NM_025144.4(ALPK1):c.992C>A (p.Ala331Asp)	ALPK1 (A331D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113460	NM_025144.4(ALPK1):c.593A>G (p.Gln198Arg)	ALPK1 (Q198R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113454	NM_025144.4(ALPK1):c.3659A>G (p.Asn1220Ser)	ALPK1 (N1142S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113444	NM_025144.4(ALPK1):c.3434C>T (p.Thr1145Met)	ALPK1 (T1067M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113437	NM_025144.4(ALPK1):c.328A>C (p.Ile110Leu)	ALPK1 (I110L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113433	NM_025144.4(ALPK1):c.3172G>C (p.Glu1058Gln)	ALPK1 (E1058Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113432	NM_025144.4(ALPK1):c.3142A>C (p.Asn1048His)	ALPK1 (N970H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113417	NM_025144.4(ALPK1):c.2953G>T (p.Ala985Ser)	ALPK1 (A907S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113407	NM_025144.4(ALPK1):c.278C>T (p.Ala93Val)	ALPK1 (A15V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113405	NM_025144.4(ALPK1):c.2680G>A (p.Gly894Ser)	ALPK1 (G816S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113400	NM_025144.4(ALPK1):c.2575G>A (p.Asp859Asn)	ALPK1 (D859N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113339	NM_025144.4(ALPK1):c.1535G>A (p.Cys512Tyr)	ALPK1 (C512Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064775	NM_025144.4(ALPK1):c.2653del (p.Ala885fs)	ALPK1 (A807fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3044405	NM_025144.4(ALPK1):c.786A>G (p.Gln262=)	ALPK1	Single nucleotide variant (synonymous variant)	ALPK1-related disorder	GLikely benign
Select item 3038268	NM_025144.4(ALPK1):c.623-5_623-4dup	ALPK1	Duplication (intron variant)	ALPK1-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3022510	NM_025144.4(ALPK1):c.130C>A (p.Pro44Thr)	ALPK1 (P44T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021777	NM_025144.4(ALPK1):c.1125C>A (p.Val375=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020270	NM_025144.4(ALPK1):c.3035G>A (p.Ser1012Asn)	ALPK1 (S1012N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020125	NM_025144.4(ALPK1):c.136G>T (p.Glu46Ter)	ALPK1 (E46*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3018495	NM_025144.4(ALPK1):c.1690A>G (p.Asn564Asp)	ALPK1 (N564D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018261	NM_025144.4(ALPK1):c.2109T>C (p.Asn703=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3016324	NM_025144.4(ALPK1):c.3034+5G>A	ALPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014570	NM_025144.4(ALPK1):c.958T>C (p.Leu320=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014506	NM_025144.4(ALPK1):c.3323T>C (p.Ile1108Thr)	ALPK1 (I1108T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3012878	NM_025144.4(ALPK1):c.3290del (p.Lys1097fs)	ALPK1 (K1097fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3012579	NM_025144.4(ALPK1):c.3351+7T>C	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012141	NM_025144.4(ALPK1):c.1180A>G (p.Thr394Ala)	ALPK1 (T316A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010885	NM_025144.4(ALPK1):c.2032A>G (p.Asn678Asp)	ALPK1 (N678D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010584	NM_025144.4(ALPK1):c.1311C>T (p.Phe437=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009305	NM_025144.4(ALPK1):c.2029C>G (p.His677Asp)	ALPK1 (H599D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009235	NM_025144.4(ALPK1):c.333G>T (p.Val111=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008236	NM_025144.4(ALPK1):c.3188+18T>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008191	NM_025144.4(ALPK1):c.2574C>T (p.Leu858=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006633	NM_025144.4(ALPK1):c.2614C>T (p.His872Tyr)	ALPK1 (H794Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004952	NM_025144.4(ALPK1):c.304C>T (p.Arg102Trp)	ALPK1 (R24W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002956	NM_025144.4(ALPK1):c.3189-3T>A	ALPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002955	NM_025144.4(ALPK1):c.3189-4_3189-3insCACAACAAAGAAGGTATGTTGGGA	ALPK1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 3002663	NM_025144.4(ALPK1):c.700G>A (p.Gly234Ser)	ALPK1 (G156S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002308	NM_025144.4(ALPK1):c.929A>G (p.Tyr310Cys)	ALPK1 (Y232C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3002201	NM_025144.4(ALPK1):c.234A>C (p.Thr78=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001323	NM_025144.4(ALPK1):c.307G>T (p.Asp103Tyr)	ALPK1 (D103Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000431	NM_025144.4(ALPK1):c.233C>A (p.Thr78Lys)	ALPK1 (T78K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000038	NM_025144.4(ALPK1):c.2513C>G (p.Pro838Arg)	ALPK1 (P760R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2999385	NM_025144.4(ALPK1):c.223G>A (p.Glu75Lys)	ALPK1 (E75K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997485	NM_025144.4(ALPK1):c.74C>G (p.Ala25Gly)	ALPK1 (A25G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995833	NM_025144.4(ALPK1):c.122-17A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995629	NM_025144.4(ALPK1):c.746T>C (p.Met249Thr)	ALPK1 (M249T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995468	NM_025144.4(ALPK1):c.3351+11C>A	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993488	NM_025144.4(ALPK1):c.277-13G>C	ALPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2992983	NM_025144.4(ALPK1):c.2336A>G (p.Lys779Arg)	ALPK1 (K701R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992431	NM_025144.4(ALPK1):c.3386G>A (p.Ser1129Asn)	ALPK1 (S1129N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992131	NM_025144.4(ALPK1):c.2754A>G (p.Leu918=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991513	NM_025144.4(ALPK1):c.1334T>C (p.Ile445Thr)	ALPK1 (I445T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991441	NM_025144.4(ALPK1):c.1768A>G (p.Ser590Gly)	ALPK1 (S590G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990815	NM_025144.4(ALPK1):c.3188+18T>C	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990391	NM_025144.4(ALPK1):c.383del (p.Leu128fs)	ALPK1 (L128fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2990235	NM_025144.4(ALPK1):c.3363C>T (p.Asp1121=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990179	NM_025144.4(ALPK1):c.3725del (p.Pro1242fs)	ALPK1 (P1164fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2989581	NM_025144.4(ALPK1):c.459_466dup (p.Val156fs)	ALPK1 (V156fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2985420	NM_025144.4(ALPK1):c.1760C>A (p.Ser587Ter)	ALPK1 (S509* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2985191	NM_025144.4(ALPK1):c.381_382delinsAA (p.Leu128Met)	ALPK1 (L50M +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2984820	NM_025144.4(ALPK1):c.700-19_700-17del	ALPK1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2984226	NM_025144.4(ALPK1):c.3125A>G (p.Lys1042Arg)	ALPK1 (K964R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984207	NM_025144.4(ALPK1):c.1456A>G (p.Thr486Ala)	ALPK1 (T408A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983600	NM_025144.4(ALPK1):c.535+13A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981080	NM_025144.4(ALPK1):c.898G>A (p.Val300Met)	ALPK1 (V300M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980266	NM_025144.4(ALPK1):c.3385A>G (p.Ser1129Gly)	ALPK1 (S1129G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2978219	NM_025144.4(ALPK1):c.2968G>A (p.Asp990Asn)	ALPK1 (D912N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977207	NM_025144.4(ALPK1):c.2738A>G (p.Gln913Arg)	ALPK1 (Q913R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976961	NM_025144.4(ALPK1):c.435G>A (p.Pro145=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974947	NM_025144.4(ALPK1):c.3528C>T (p.Val1176=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974460	NM_025144.4(ALPK1):c.305G>A (p.Arg102Gln)	ALPK1 (R102Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974316	NM_025144.4(ALPK1):c.2038C>G (p.Pro680Ala)	ALPK1 (P680A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973231	NM_025144.4(ALPK1):c.1069G>C (p.Ala357Pro)	ALPK1 (A357P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972335	NM_025144.4(ALPK1):c.2174A>G (p.Asp725Gly)	ALPK1 (D647G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2970253	NM_025144.4(ALPK1):c.821A>G (p.His274Arg)	ALPK1 (H274R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969111	NM_025144.4(ALPK1):c.3025C>T (p.Arg1009Ter)	ALPK1 (R1009* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2968568	NM_025144.4(ALPK1):c.1222G>A (p.Val408Ile)	ALPK1 (V330I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967839	NM_025144.4(ALPK1):c.648A>G (p.Leu216=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967172	NM_025144.4(ALPK1):c.3598G>A (p.Val1200Ile)	ALPK1 (V1122I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966485	NM_025144.4(ALPK1):c.1210C>T (p.Leu404=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965833	NM_025144.4(ALPK1):c.3592C>T (p.His1198Tyr)	ALPK1 (H1198Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964383	NM_025144.4(ALPK1):c.3352-18C>T	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964144	NM_025144.4(ALPK1):c.3352-16C>T	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964130	NM_025144.4(ALPK1):c.364G>C (p.Asp122His)	ALPK1 (D122H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963385	NM_025144.4(ALPK1):c.1121C>T (p.Thr374Met)	ALPK1 (T374M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963096	NM_025144.4(ALPK1):c.3261C>T (p.Thr1087=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962795	NM_025144.4(ALPK1):c.276+15A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962572	NM_025144.4(ALPK1):c.1374C>T (p.Thr458=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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