KCNK4-CATSPERZ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
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 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 1367979	NM_033310.3(KCNK4):c.11C>T (p.Thr4Ile)	KCNK4, KCNK4-CATSPERZ (T4I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1471850	NM_033310.3(KCNK4):c.16C>G (p.Leu6Val)	KCNK4, KCNK4-CATSPERZ (L6V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1406377	NM_033310.3(KCNK4):c.23C>T (p.Ala8Val)	KCNK4, KCNK4-CATSPERZ (A8V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1575952	NM_033310.3(KCNK4):c.24C>T (p.Ala8=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 2641916	NM_033310.3(KCNK4):c.33G>A (p.Ala11=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2087030	NM_033310.3(KCNK4):c.36G>T (p.Leu12=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 2046605	NM_033310.3(KCNK4):c.55T>C (p.Ser19Pro)	KCNK4, KCNK4-CATSPERZ (S19P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1909319	NM_033310.3(KCNK4):c.55T>G (p.Ser19Ala)	KCNK4, KCNK4-CATSPERZ (S19A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1603238	NM_033310.3(KCNK4):c.63C>T (p.Ala21=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1375741	NM_033310.3(KCNK4):c.74G>A (p.Arg25Gln)	KCNK4, KCNK4-CATSPERZ (R25Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1382771	NM_033310.3(KCNK4):c.77C>T (p.Ala26Val)	KCNK4, KCNK4-CATSPERZ (A26V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1466048	NM_033310.3(KCNK4):c.80T>C (p.Leu27Pro)	KCNK4, KCNK4-CATSPERZ (L27P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1993985	NM_033310.3(KCNK4):c.87G>A (p.Gln29=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1392368	NM_033310.3(KCNK4):c.93C>A (p.His31Gln)	KCNK4, KCNK4-CATSPERZ (H31Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	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 1950183	NM_033310.3(KCNK4):c.103G>T (p.Ala35Ser)	KCNK4, KCNK4-CATSPERZ (A35S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1432584	NM_033310.3(KCNK4):c.104C>T (p.Ala35Val)	KCNK4, KCNK4-CATSPERZ (A35V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1494442	NM_033310.3(KCNK4):c.112G>C (p.Glu38Gln)	KCNK4, KCNK4-CATSPERZ (E38Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1917484	NM_033310.3(KCNK4):c.128G>A (p.Arg43Gln)	KCNK4, KCNK4-CATSPERZ (R43Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1523653	NM_033310.3(KCNK4):c.128G>T (p.Arg43Leu)	KCNK4, KCNK4-CATSPERZ (R43L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely 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 2488112	NM_033310.3(KCNK4):c.140T>C (p.Leu47Pro)	KCNK4, KCNK4-CATSPERZ (L47P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1655588	NM_033310.3(KCNK4):c.144G>A (p.Arg48=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1370882	NM_033310.3(KCNK4):c.145G>A (p.Ala49Thr)	KCNK4, KCNK4-CATSPERZ (A49T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1433071	NM_033310.3(KCNK4):c.149A>G (p.His50Arg)	KCNK4, KCNK4-CATSPERZ (H50R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1563823	NM_033310.3(KCNK4):c.153G>C (p.Pro51=)	KCNK4-CATSPERZ, KCNK4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 1623414	NM_033310.3(KCNK4):c.163G>C (p.Asp55His)	KCNK4, KCNK4-CATSPERZ (D55H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1511160	NM_033310.3(KCNK4):c.166C>A (p.Gln56Lys)	KCNK4, KCNK4-CATSPERZ (Q56K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 1562369	NM_033310.3(KCNK4):c.176G>C (p.Gly59Ala)	KCNK4, KCNK4-CATSPERZ (G59A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1475152	NM_033310.3(KCNK4):c.184A>G (p.Ile62Val)	KCNK4, KCNK4-CATSPERZ (I62V)	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
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 1932509	NM_033310.3(KCNK4):c.189+5G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	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 1633950	NM_033310.3(KCNK4):c.189+16G>T	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531178	NM_033310.3(KCNK4):c.189+16G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542164	NM_033310.3(KCNK4):c.190-9G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578035	NM_033310.3(KCNK4):c.190-4G>T	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630997	NM_033310.3(KCNK4):c.193G>A (p.Val65Met)	KCNK4, KCNK4-CATSPERZ (V65M)	Single nucleotide variant (non-coding transcript variant +1 more)	KCNK4-related disorder	GUncertain significance
Select item 1370398	NM_033310.3(KCNK4):c.194T>C (p.Val65Ala)	KCNK4, KCNK4-CATSPERZ (V65A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	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 1379939	NM_033310.3(KCNK4):c.205C>G (p.Leu69Val)	KCNK4, KCNK4-CATSPERZ (L69V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1462830	NM_033310.3(KCNK4):c.212G>C (p.Gly71Ala)	KCNK4, KCNK4-CATSPERZ (G71A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 1932136	NM_033310.3(KCNK4):c.218C>T (p.Ala73Val)	KCNK4, KCNK4-CATSPERZ (A73V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1622064	NM_033310.3(KCNK4):c.219G>A (p.Ala73=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1440451	NM_033310.3(KCNK4):c.220G>A (p.Asp74Asn)	KCNK4, KCNK4-CATSPERZ (D74N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1946015	NM_033310.3(KCNK4):c.224C>A (p.Pro75Gln)	KCNK4, KCNK4-CATSPERZ (P75Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2115527	NM_033310.3(KCNK4):c.225A>G (p.Pro75=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1367416	NM_033310.3(KCNK4):c.236C>T (p.Ser79Leu)	KCNK4, KCNK4-CATSPERZ (S79L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2504959	NM_033310.3(KCNK4):c.239C>T (p.Thr80Ile)	KCNK4, KCNK4-CATSPERZ (T80I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1653543	NM_033310.3(KCNK4):c.240C>A (p.Thr80=)	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 1690584	NM_033310.3(KCNK4):c.264G>A (p.Trp88Ter)	KCNK4, KCNK4-CATSPERZ (W88*)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	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 1924266	NM_033310.3(KCNK4):c.277G>A (p.Ala93Thr)	KCNK4, KCNK4-CATSPERZ (A93T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1660716	NM_033310.3(KCNK4):c.294G>A (p.Gly98=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2176378	NM_033310.3(KCNK4):c.300C>T (p.Ile100=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1352173	NM_033310.3(KCNK4):c.308C>T (p.Thr103Ile)	KCNK4, KCNK4-CATSPERZ (T103I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1427889	NM_033310.3(KCNK4):c.312C>T (p.Ile104=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2725468	NM_033310.3(KCNK4):c.313+3G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GBenign
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 2991245	NM_033310.3(KCNK4):c.314-17A>C	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658420	NM_033310.3(KCNK4):c.314-15C>T	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898036	NM_033310.3(KCNK4):c.314-14G>A	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659049	NM_033310.3(KCNK4):c.314-14G>T	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666857	NM_033310.3(KCNK4):c.314-13C>T	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601799	NM_033310.3(KCNK4):c.314-12C>T	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (intron variant)	not provided	GBenign
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 1606488	NM_033310.3(KCNK4):c.324T>C (p.Asn108=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1923427	NM_033310.3(KCNK4):c.328G>A (p.Ala110Thr)	KCNK4, KCNK4-CATSPERZ (A110T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1463729	NM_033310.3(KCNK4):c.332T>C (p.Leu111Pro)	KCNK4, KCNK4-CATSPERZ (L111P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1471920	NM_033310.3(KCNK4):c.334C>T (p.Arg112Cys)	KCNK4, KCNK4-CATSPERZ (R112C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1440507	NM_033310.3(KCNK4):c.337_344dup (p.Gly116fs)	KCNK4-CATSPERZ, KCNK4 (G116fs)	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2189551	NM_033310.3(KCNK4):c.335G>A (p.Arg112His)	KCNK4, KCNK4-CATSPERZ (R112H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1653137	NM_033310.3(KCNK4):c.336C>T (p.Arg112=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1464273	NM_033310.3(KCNK4):c.337A>G (p.Thr113Ala)	KCNK4, KCNK4-CATSPERZ (T113A)	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 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 2086129	NM_033310.3(KCNK4):c.346G>T (p.Gly116Trp)	KCNK4, KCNK4-CATSPERZ (G116W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2166908	NM_033310.3(KCNK4):c.348G>C (p.Gly116=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1564545	NM_033310.3(KCNK4):c.351C>T (p.Arg117=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1473650	NM_033310.3(KCNK4):c.358T>C (p.Cys120Arg)	KCNK4, KCNK4-CATSPERZ (C120R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1621245	NM_033310.3(KCNK4):c.360C>T (p.Cys120=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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