ClinVar for MedGen (Select 395636) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699286	NM_172362.3(KCNH1):c.2735A>C (p.His912Pro)	KCNH1 (H885P +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GUncertain significance
Select item 1691262	NM_172362.3(KCNH1):c.338T>C (p.Ile113Thr)	KCNH1 (I113T)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GUncertain significance
Select item 1600068	NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr)	KCNH1 (M694T +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1493344	NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp)	KCNH1 (R330W +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1339058	NM_172362.3(KCNH1):c.1180G>A (p.Ala394Thr)	KCNH1 (A367T +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +1 more	GUncertain significance
Select item 1285479	NM_172362.3(KCNH1):c.1493T>C (p.Val498Ala)	KCNH1 (V471A +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GUncertain significance
Select item 1243506	NM_172362.3(KCNH1):c.2136T>C (p.Asp712=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1216384	NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg)	KCNH1 (G801R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1213775	NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met)	KCNH1 (T658M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1206068	NM_172362.3(KCNH1):c.80-6del	KCNH1	Deletion (intron variant)	Temple-Baraitser syndrome +2 more	GBenign
Select item 1174747	NM_172362.3(KCNH1):c.80-19dup	KCNH1	Duplication (intron variant)	Zimmermann-Laband syndrome 1 +2 more	GBenign/Likely benign
Select item 1029267	NM_172362.3(KCNH1):c.2206C>G (p.Pro736Ala)	KCNH1 (P709A +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GUncertain significance
Select item 778789	NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)	KCNH1 (Q896P +1 more)	Single nucleotide variant (missense variant)	KCNH1-related condition +3 more	GBenign/Likely benign
Select item 707476	NM_172362.3(KCNH1):c.2448G>A (p.Ala816=)	KCNH1	Single nucleotide variant (synonymous variant)	Temple-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 689343	NM_172362.3(KCNH1):c.2265G>C (p.Glu755Asp)	KCNH1 (E728D +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GLikely benign
Select item 587447	NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)	KCNH1 (G345A +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +1 more	GUncertain significance
Select item 279981	NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	KCNH1 (R357Q +1 more)	Single nucleotide variant (missense variant)	KCNH1-related disorders +4 more	GPathogenic/Likely pathogenic
Select item 183418	NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	KCNH1 (G469R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 162523	NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn)	KCNH1 (K217N)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GPathogenic
Select item 162522	NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg)	KCNH1 (Q503R +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GPathogenic
Select item 162521	NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe)	KCNH1 (L489F +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GPathogenic
Select item 162520	NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)	KCNH1 (I494V +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1 +2 more	GPathogenic

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Items: 22