"KCNK4-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1575952	NM_033310.3(KCNK4):c.24C>T (p.Ala8=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	KCNK4-related disorder +1 more	GBenign/Likely 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 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 1606488	NM_033310.3(KCNK4):c.324T>C (p.Asn108=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	KCNK4-related disorder +1 more	GBenign/Likely benign
Select item 1335073	NM_033310.3(KCNK4):c.492G>A (p.Pro164=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	KCNK4-related disorder +1 more	GBenign/Likely benign
Select item 1654455	NM_033310.3(KCNK4):c.684C>A (p.Ser228=)	KCNK4-CATSPERZ, KCNK4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
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 1562687	NM_033310.3(KCNK4):c.738C>T (p.Phe246=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1246421	NM_033310.3(KCNK4):c.843G>A (p.Thr281=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 1570699	NM_033310.3(KCNK4):c.1094C>T (p.Pro365Leu)	KCNK4, KCNK4-CATSPERZ (P365L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1599359	NM_033310.3(KCNK4):c.1155T>G (p.Arg385=)	KCNK4, KCNK4-CATSPERZ	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign