ClinVar for MedGen (Select 1679105) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2433004	NM_033310.3(KCNK4):c.366_369delinsCTGCCGG (p.Tyr123delinsCysArg)	KCNK4, KCNK4-CATSPERZ	Indel (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	GUncertain significance
Select item 2433003	NM_033310.3(KCNK4):c.964C>T (p.Pro322Ser)	KCNK4, KCNK4-CATSPERZ (P322S)	Single nucleotide variant (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	GUncertain significance
Select item 1371894	NM_033310.3(KCNK4):c.437T>C (p.Leu146Pro)	KCNK4, KCNK4-CATSPERZ (L146P)	Single nucleotide variant (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +2 more	GUncertain significance
Select item 1354165	NM_033310.3(KCNK4):c.760G>A (p.Gly254Arg)	KCNK4, KCNK4-CATSPERZ (G254R)	Single nucleotide variant (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +1 more	GUncertain significance
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 930709	NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)	KCNK4, KCNK4-CATSPERZ (P233L)	Single nucleotide variant (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 930708	NM_033310.3(KCNK4):c.683C>T (p.Ser228Phe)	KCNK4, KCNK4-TEX40 (S228F)	Single nucleotide variant (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	GUncertain significance
Select item 560222	NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)	KCNK4, KCNK4-CATSPERZ (A244P)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized hypertrichosis +4 more	GPathogenic
Select item 560221	NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)	KCNK4, KCNK4-CATSPERZ (A172E)	Single nucleotide variant (non-coding transcript variant +1 more)	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +5 more	GPathogenic/Likely pathogenic