ClinVar for MedGen (Select 1639277) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064695	NM_172362.3(KCNH1):c.115G>T (p.Asp39Tyr)	KCNH1 (D39Y)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 2627570	NM_172362.3(KCNH1):c.137A>G (p.Asn46Ser)	KCNH1 (N46S)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 2499611	NM_172362.3(KCNH1):c.1123G>C (p.Gly375Arg)	KCNH1 (G348R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 1706444	NM_172362.3(KCNH1):c.2658G>C (p.Lys886Asn)	KCNH1 (K859N +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 1600068	NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr)	KCNH1 (M694T +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1 +3 more	GConflicting classifications of pathogenicity
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 1250452	NM_172362.3(KCNH1):c.2477G>T (p.Gly826Val)	KCNH1 (G799V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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)	Temple-Baraitser syndrome +2 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 1034356	NM_172362.3(KCNH1):c.2859_2861delinsTAC (p.Glu953_Ile954delinsAspThr)	KCNH1	Indel (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 1034355	NM_172362.3(KCNH1):c.1559G>A (p.Arg520Gln)	KCNH1 (R520Q +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GLikely pathogenic
Select item 930399	NM_172362.3(KCNH1):c.1717C>T (p.Arg573Cys)	KCNH1 (R573C +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 930362	NM_172362.3(KCNH1):c.1958C>T (p.Thr653Ile)	KCNH1 (T626I +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 778789	NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)	KCNH1 (Q896P +1 more)	Single nucleotide variant (missense variant)	not provided +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 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)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 203434	NM_002238.3(KCNH1):c.[1066G>C;974C>A]	KCNH1 (V356L +3 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183419	NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr)	KCNH1 (S325Y +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183418	NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	KCNH1 (G469R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 183417	NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)	KCNH1 (V356L +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183416	NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)	KCNH1 (L352V +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183415	NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg)	KCNH1 (G348R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183414	NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro)	ATP6V1B2 (R485P)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2 +1 more	GPathogenic
Select item 162520	NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)	KCNH1 (I494V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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Items: 27