ClinVar for Gene (Select 50801) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 402

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369775	NM_033310.3(KCNK4):c.367T>A (p.Tyr123Asn)	KCNK4, KCNK4-CATSPERZ (Y123N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3369365	NM_033310.3(KCNK4):c.203C>T (p.Ala68Val)	KCNK4-CATSPERZ, KCNK4 (A68V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3369302	NM_033310.3(KCNK4):c.898G>T (p.Glu300Ter)	KCNK4, KCNK4-CATSPERZ (E300*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3369131	NM_033310.3(KCNK4):c.495G>C (p.Glu165Asp)	KCNK4, KCNK4-CATSPERZ (E165D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3367242	NM_033310.3(KCNK4):c.841_843delinsTCA (p.Thr281Ser)	KCNK4, KCNK4-CATSPERZ (T281S)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3365815	NM_033310.3(KCNK4):c.217G>A (p.Ala73Thr)	KCNK4, KCNK4-CATSPERZ (A73T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3113406	NM_033310.3(KCNK4):c.400C>A (p.Leu134Ile)	KCNK4, KCNK4-CATSPERZ (L134I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3064516	NM_033310.3(KCNK4):c.547T>C (p.Phe183Leu)	KCNK4, KCNK4-CATSPERZ (F183L)	Single nucleotide variant (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3029538	NM_033310.3(KCNK4):c.1122dup (p.Arg375fs)	KCNK4, KCNK4-CATSPERZ (R375fs)	Duplication (non-coding transcript variant +1 more)	KCNK4-related disorder	GUncertain significance
Select item 3029175	NM_033310.3(KCNK4):c.705G>A (p.Val235=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	KCNK4-related disorder	GLikely benign
Select item 3018706	NM_033310.3(KCNK4):c.557C>G (p.Thr186Arg)	KCNK4, KCNK4-CATSPERZ (T186R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3009943	NM_033310.3(KCNK4):c.1140C>T (p.Pro380=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3006264	NM_033310.3(KCNK4):c.891G>T (p.Pro297=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3003834	NM_033310.3(KCNK4):c.506T>G (p.Val169Gly)	KCNK4, KCNK4-CATSPERZ (V169G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2996364	NM_033310.3(KCNK4):c.567C>T (p.Phe189=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2991245	NM_033310.3(KCNK4):c.314-17A>C	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985274	NM_033310.3(KCNK4):c.890C>T (p.Pro297Leu)	KCNK4, KCNK4-CATSPERZ (P297L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2978968	NM_033310.3(KCNK4):c.1122C>T (p.Pro374=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2971840	NM_033310.3(KCNK4):c.246C>T (p.Asn82=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2970810	NM_033310.3(KCNK4):c.867A>G (p.Arg289=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2969818	NM_033310.3(KCNK4):c.136T>C (p.Phe46Leu)	KCNK4, KCNK4-CATSPERZ (F46L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2968662	NM_033310.3(KCNK4):c.891G>A (p.Pro297=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2968044	NM_033310.3(KCNK4):c.662-13G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2966749	NM_033310.3(KCNK4):c.948G>A (p.Arg316=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2961817	NM_033310.3(KCNK4):c.54G>A (p.Val18=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2961362	NM_033310.3(KCNK4):c.1121C>G (p.Pro374Arg)	KCNK4, KCNK4-CATSPERZ (P374R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2960100	NM_033310.3(KCNK4):c.276C>T (p.Ser92=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2958417	NM_033310.3(KCNK4):c.683C>A (p.Ser228Tyr)	KCNK4, KCNK4-CATSPERZ (S228Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2908791	NM_033310.3(KCNK4):c.348del (p.Arg117fs)	KCNK4, KCNK4-CATSPERZ (R117fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2903664	NM_033310.3(KCNK4):c.648C>T (p.Gly216=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2901193	NM_033310.3(KCNK4):c.785G>A (p.Arg262His)	KCNK4, KCNK4-CATSPERZ (R262H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2895888	NM_033310.3(KCNK4):c.664G>A (p.Ala222Thr)	KCNK4-CATSPERZ, KCNK4 (A222T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2892348	NM_033310.3(KCNK4):c.686C>T (p.Pro229Leu)	KCNK4, KCNK4-CATSPERZ (P229L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2889866	NM_033310.3(KCNK4):c.661+9G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884725	NM_033310.3(KCNK4):c.724G>A (p.Gly242Ser)	KCNK4, KCNK4-CATSPERZ (G242S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2879768	NM_033310.3(KCNK4):c.661G>A (p.Gly221Ser)	KCNK4, KCNK4-CATSPERZ (G221S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2878097	NM_033310.3(KCNK4):c.300C>G (p.Ile100Met)	KCNK4, KCNK4-CATSPERZ (I100M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2875589	NM_033310.3(KCNK4):c.731C>A (p.Ala244Asp)	KCNK4, KCNK4-CATSPERZ (A244D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2875197	NM_033310.3(KCNK4):c.410G>T (p.Gly137Val)	KCNK4, KCNK4-CATSPERZ (G137V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2873429	NM_033310.3(KCNK4):c.189+3G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869909	NM_033310.3(KCNK4):c.854G>A (p.Arg285His)	KCNK4, KCNK4-CATSPERZ (R285H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2869738	NM_033310.3(KCNK4):c.1075T>C (p.Cys359Arg)	KCNK4, KCNK4-CATSPERZ (C359R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2869344	NM_033310.3(KCNK4):c.474+1G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2867106	NM_033310.3(KCNK4):c.346G>A (p.Gly116Arg)	KCNK4, KCNK4-CATSPERZ (G116R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2850923	NM_033310.3(KCNK4):c.703G>T (p.Val235Leu)	KCNK4, KCNK4-CATSPERZ (V235L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2850294	NM_033310.3(KCNK4):c.511T>C (p.Ser171Pro)	KCNK4, KCNK4-CATSPERZ (S171P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2845739	NM_033310.3(KCNK4):c.313+7G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2842601	NM_033310.3(KCNK4):c.851C>A (p.Ala284Glu)	KCNK4, KCNK4-CATSPERZ (A284E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2841359	NM_033310.3(KCNK4):c.662-5C>G	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838717	NM_033310.3(KCNK4):c.4C>A (p.Arg2Ser)	KCNK4, KCNK4-CATSPERZ (R2S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2837976	NM_033310.3(KCNK4):c.352C>T (p.Leu118Phe)	KCNK4, KCNK4-CATSPERZ (L118F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2836785	NM_033310.3(KCNK4):c.948G>T (p.Arg316Ser)	KCNK4, KCNK4-CATSPERZ (R316S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2834347	NM_033310.3(KCNK4):c.580A>G (p.Met194Val)	KCNK4, KCNK4-CATSPERZ (M194V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2829210	NM_033310.3(KCNK4):c.1120_1131del (p.Pro374_Pro377del)	KCNK4, KCNK4-CATSPERZ	Deletion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2811986	NM_033310.3(KCNK4):c.474+13A>G	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811373	NM_033310.3(KCNK4):c.810C>G (p.Gly270=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2808484	NM_033310.3(KCNK4):c.1053G>A (p.Ser351=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2807726	NM_033310.3(KCNK4):c.871G>C (p.Gly291Arg)	KCNK4, KCNK4-CATSPERZ (G291R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2806682	NM_033310.3(KCNK4):c.739G>A (p.Ala247Thr)	KCNK4, KCNK4-CATSPERZ (A247T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2802741	NM_033310.3(KCNK4):c.1128G>A (p.Lys376=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802173	NM_033310.3(KCNK4):c.687G>A (p.Pro229=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2800921	NM_033310.3(KCNK4):c.215G>T (p.Gly72Val)	KCNK4, KCNK4-CATSPERZ (G72V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2800369	NM_033310.3(KCNK4):c.492G>T (p.Pro164=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2797665	NM_033310.3(KCNK4):c.209G>C (p.Gly70Ala)	KCNK4, KCNK4-CATSPERZ (G70A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2796367	NM_033310.3(KCNK4):c.175G>A (p.Gly59Ser)	KCNK4, KCNK4-CATSPERZ (G59S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2795903	NM_033310.3(KCNK4):c.1158C>G (p.Pro386=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2794782	NM_033310.3(KCNK4):c.738C>A (p.Phe246Leu)	KCNK4-CATSPERZ, KCNK4 (F246L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2790481	NM_033310.3(KCNK4):c.372G>C (p.Ala124=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2789779	NM_033310.3(KCNK4):c.751A>G (p.Thr251Ala)	KCNK4, KCNK4-CATSPERZ (T251A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2787426	NM_033310.3(KCNK4):c.387G>A (p.Pro129=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2783956	NM_033310.3(KCNK4):c.127C>T (p.Arg43Ter)	KCNK4, KCNK4-CATSPERZ (R43*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2783202	NM_033310.3(KCNK4):c.95A>G (p.Glu32Gly)	KCNK4, KCNK4-CATSPERZ (E32G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2782247	NM_033310.3(KCNK4):c.796G>A (p.Ala266Thr)	KCNK4, KCNK4-CATSPERZ (A266T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2781945	NM_033310.3(KCNK4):c.1069C>G (p.Arg357Gly)	KCNK4, KCNK4-CATSPERZ (R357G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2781438	NM_033310.3(KCNK4):c.42G>A (p.Leu14=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2779610	NM_033310.3(KCNK4):c.1118C>T (p.Pro373Leu)	KCNK4, KCNK4-CATSPERZ (P373L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2778395	NM_033310.3(KCNK4):c.5G>A (p.Arg2His)	KCNK4, KCNK4-CATSPERZ (R2H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2778205	NM_033310.3(KCNK4):c.1142G>A (p.Arg381His)	KCNK4, KCNK4-CATSPERZ (R381H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2777919	NM_033310.3(KCNK4):c.161G>C (p.Ser54Thr)	KCNK4, KCNK4-CATSPERZ (S54T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2775776	NM_033310.3(KCNK4):c.189+15C>T	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769749	NM_033310.3(KCNK4):c.147C>T (p.Ala49=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2769268	NM_033310.3(KCNK4):c.1128G>T (p.Lys376Asn)	KCNK4, KCNK4-CATSPERZ (K376N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2768926	NM_033310.3(KCNK4):c.314-9T>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2767505	NM_033310.3(KCNK4):c.963G>T (p.Ser321=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2762158	NM_033310.3(KCNK4):c.169G>T (p.Glu57Ter)	KCNK4, KCNK4-CATSPERZ (E57*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2753688	NM_033310.3(KCNK4):c.73C>G (p.Arg25Gly)	KCNK4, KCNK4-CATSPERZ (R25G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2753321	NM_033310.3(KCNK4):c.568G>C (p.Val190Leu)	KCNK4, KCNK4-CATSPERZ (V190L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2747464	NM_033310.3(KCNK4):c.651C>T (p.Asp217=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2725468	NM_033310.3(KCNK4):c.313+3G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2721871	NM_033310.3(KCNK4):c.720G>A (p.Leu240=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2721094	NM_033310.3(KCNK4):c.475A>G (p.Lys159Glu)	KCNK4, KCNK4-CATSPERZ (K159E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2720865	NM_033310.3(KCNK4):c.557C>T (p.Thr186Met)	KCNK4, KCNK4-CATSPERZ (T186M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2718880	NM_033310.3(KCNK4):c.237_240del (p.Thr80fs)	KCNK4, KCNK4-CATSPERZ (T80fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2714243	NM_033310.3(KCNK4):c.929C>T (p.Pro310Leu)	KCNK4, KCNK4-CATSPERZ (P310L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2709762	NM_033310.3(KCNK4):c.987T>A (p.Pro329=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2709191	NM_033310.3(KCNK4):c.1069C>T (p.Arg357Cys)	KCNK4, KCNK4-CATSPERZ (R357C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2705887	NM_033310.3(KCNK4):c.787C>T (p.Arg263Cys)	KCNK4, KCNK4-CATSPERZ (R263C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2702657	NM_033310.3(KCNK4):c.189G>A (p.Lys63=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 5