KCNH4[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2553599	NM_012285.3(KCNH4):c.3050A>G (p.His1017Arg)	KCNH4 (H1017R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530502	NM_012285.3(KCNH4):c.3044C>T (p.Thr1015Met)	KCNH4 (T1015M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208566	NM_012285.3(KCNH4):c.2953G>C (p.Glu985Gln)	KCNH4 (E985Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113230	NM_012285.3(KCNH4):c.2945A>G (p.Tyr982Cys)	KCNH4 (Y982C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113229	NM_012285.3(KCNH4):c.2923A>G (p.Arg975Gly)	KCNH4 (R975G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771027	NM_012285.3(KCNH4):c.2763C>T (p.Ser921=)	KCNH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2523440	NM_012285.3(KCNH4):c.2713A>G (p.Met905Val)	KCNH4 (M905V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113228	NM_012285.3(KCNH4):c.2704C>T (p.Arg902Trp)	KCNH4 (R902W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113227	NM_012285.3(KCNH4):c.2675A>T (p.Gln892Leu)	KCNH4 (Q892L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287590	NM_012285.3(KCNH4):c.2666G>A (p.Arg889His)	KCNH4 (R889H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287587	NM_012285.3(KCNH4):c.2644C>T (p.Arg882Trp)	KCNH4 (R882W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511459	NM_012285.3(KCNH4):c.2564G>A (p.Arg855His)	KCNH4 (R855H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287593	NM_012285.3(KCNH4):c.2558G>A (p.Arg853Lys)	KCNH4 (R853K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113226	NM_012285.3(KCNH4):c.2449A>G (p.Thr817Ala)	KCNH4 (T817A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206622	NM_012285.3(KCNH4):c.2444T>G (p.Leu815Arg)	KCNH4 (L815R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113225	NM_012285.3(KCNH4):c.2441C>T (p.Pro814Leu)	KCNH4 (P814L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233068	NM_012285.3(KCNH4):c.2419C>T (p.Pro807Ser)	KCNH4 (P807S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113224	NM_012285.3(KCNH4):c.2395C>G (p.Pro799Ala)	KCNH4 (P799A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399576	NM_012285.3(KCNH4):c.2392C>G (p.Pro798Ala)	KCNH4 (P798A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563507	NM_012285.3(KCNH4):c.2354C>G (p.Ala785Gly)	KCNH4 (A785G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356019	NM_012285.3(KCNH4):c.2264G>A (p.Arg755Gln)	KCNH4 (R755Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618268	NM_012285.3(KCNH4):c.2254G>A (p.Ala752Thr)	KCNH4 (A752T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343425	NM_012285.3(KCNH4):c.2162C>T (p.Thr721Met)	KCNH4 (T721M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484214	NM_012285.3(KCNH4):c.2114G>A (p.Arg705His)	KCNH4 (R705H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382834	NM_012285.3(KCNH4):c.2113C>T (p.Arg705Cys)	KCNH4 (R705C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287592	NM_012285.3(KCNH4):c.2104C>G (p.Arg702Gly)	KCNH4 (R702G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603356	NM_012285.3(KCNH4):c.2030G>A (p.Arg677Gln)	KCNH4 (R677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287594	NM_012285.3(KCNH4):c.1988C>A (p.Ala663Asp)	KCNH4 (A663D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284477	NM_012285.3(KCNH4):c.1849G>C (p.Asp617His)	KCNH4 (D617H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373519	NM_012285.3(KCNH4):c.1757G>A (p.Arg586His)	KCNH4 (R586H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287591	NM_012285.3(KCNH4):c.1697G>A (p.Arg566Gln)	KCNH4 (R566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287586	NM_012285.3(KCNH4):c.1672G>A (p.Gly558Arg)	KCNH4 (G558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542084	NM_012285.3(KCNH4):c.1627A>G (p.Ile543Val)	KCNH4 (I543V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049893	NM_012285.3(KCNH4):c.1532G>A (p.Arg511His)	KCNH4 (R511H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287589	NM_012285.3(KCNH4):c.1531C>G (p.Arg511Gly)	KCNH4 (R511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594513	NM_012285.3(KCNH4):c.1517G>A (p.Arg506Gln)	KCNH4 (R506Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373852	NM_012285.3(KCNH4):c.1498C>T (p.Arg500Cys)	KCNH4 (R500C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232746	NM_012285.3(KCNH4):c.1456T>C (p.Ser486Pro)	KCNH4 (S486P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113223	NM_012285.3(KCNH4):c.1405G>A (p.Val469Met)	KCNH4 (V469M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703091	NM_012285.3(KCNH4):c.1390+1G>A	KCNH4, LOC125177479	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3113222	NM_012285.3(KCNH4):c.1376C>T (p.Thr459Met)	KCNH4, LOC125177479 (T459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278841	NM_012285.3(KCNH4):c.1373G>T (p.Cys458Phe)	KCNH4, LOC125177479 (C458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411369	NM_012285.3(KCNH4):c.1268G>T (p.Arg423Leu)	KCNH4 (R423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398575	NM_012285.3(KCNH4):c.1268G>A (p.Arg423His)	KCNH4 (R423H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558676	NM_012285.3(KCNH4):c.1181T>G (p.Leu394Arg)	KCNH4 (L394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507919	NM_012285.3(KCNH4):c.1088C>T (p.Thr363Met)	KCNH4 (T363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113220	NM_012285.3(KCNH4):c.1027C>T (p.Arg343Trp)	KCNH4 (R343W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377572	NM_012285.3(KCNH4):c.782G>A (p.Arg261Gln)	KCNH4 (R261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113233	NM_012285.3(KCNH4):c.779C>T (p.Ser260Leu)	KCNH4 (S260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647783	NM_012285.3(KCNH4):c.690C>T (p.Asp230=)	KCNH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113232	NM_012285.3(KCNH4):c.670G>A (p.Val224Ile)	KCNH4 (V224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281610	NM_012285.3(KCNH4):c.568G>A (p.Gly190Ser)	KCNH4 (G190S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113231	NM_012285.3(KCNH4):c.533G>A (p.Arg178Gln)	KCNH4 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473699	NM_012285.3(KCNH4):c.479G>T (p.Gly160Val)	KCNH4 (G160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478203	NM_012285.3(KCNH4):c.359T>C (p.Met120Thr)	KCNH4 (M120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541288	NM_012285.3(KCNH4):c.317C>T (p.Ala106Val)	KCNH4 (A106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256959	NM_012285.3(KCNH4):c.280C>G (p.Arg94Gly)	KCNH4 (R94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287588	NM_012285.3(KCNH4):c.275A>G (p.Glu92Gly)	KCNH4 (E92G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399575	NM_012285.3(KCNH4):c.197G>A (p.Ser66Asn)	KCNH4 (S66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509182	NM_012285.3(KCNH4):c.182T>C (p.Met61Thr)	KCNH4 (M61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242910	NM_012285.3(KCNH4):c.112C>T (p.Arg38Trp)	KCNH4 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299868	NM_012285.3(KCNH4):c.100G>A (p.Ala34Thr)	KCNH4 (A34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 69