Related gene-specific medical variations for Gene (Select 3756) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361708	NM_172362.3(KCNH1):c.1268C>T (p.Ala423Val)	KCNH1 (A396V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360813	NM_172362.3(KCNH1):c.2579A>G (p.Glu860Gly)	KCNH1 (E833G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248031	NC_000001.10:g.(?_211186121)_(211192575_?)del	KCNH1	Deletion	not provided	GUncertain significance
Select item 3248030	NC_000001.10:g.(?_210856623)_(211307287_?)dup	KCNH1	Duplication	not provided	GUncertain significance
Select item 3248028	NC_000001.10:g.(?_211092962)_(211192618_?)del	KCNH1	Deletion	not provided	GUncertain significance
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 2432996	NM_172362.3(KCNH1):c.2800A>G (p.Lys934Glu)	KCNH1 (K907E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432995	NM_172362.3(KCNH1):c.2957T>C (p.Phe986Ser)	KCNH1 (F959S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430053	NM_172362.3(KCNH1):c.2138T>A (p.Val713Glu)	KCNH1 (V686E +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
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 1340250	GRCh37/hg19 1q32.2(chr1:211206997-211262703)x1	KCNH1	Copy number loss	not provided	GUncertain significance
Select item 1288143	NM_172362.3(KCNH1):c.-120G>T	KCNH1, LOC129932440	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 979930	GRCh37/hg19 1q32.2(chr1:210893330-211191623)x3	KCNH1	Copy number gain	not provided	GUncertain significance
Select item 975412	NM_172362.3(KCNH1):c.245A>G (p.Lys82Arg)	KCNH1 (K82R)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975411	NM_172362.3(KCNH1):c.2941T>G (p.Ser981Ala)	KCNH1 (S954A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
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 814158	GRCh37/hg19 1q32.2(chr1:211206994-211262703)x1	KCNH1	Copy number loss	not provided	GUncertain significance
Select item 591989	NM_172362.3(KCNH1):c.675G>T (p.Leu225Phe)	KCNH1 (L225F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560720	NM_172362.3(KCNH1):c.596A>G (p.Lys199Arg)	KCNH1 (K199R)	Single nucleotide variant (missense variant)	KCNH1-related phenotype	GLikely pathogenic
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 183417	NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)	KCNH1 (V356L +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic

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Links from Gene

Items: 22