"GeneDx"[submitter] AND "HCN2"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1291938	NM_001194.4(HCN2):c.227G>A (p.Arg76His)	HCN2 (R76H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3364653	NM_001194.4(HCN2):c.250C>T (p.Arg84Cys)	HCN2 (R84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226483	NM_001194.4(HCN2):c.378G>T (p.Ser126=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 392202	NM_001194.4(HCN2):c.433G>C (p.Gly145Arg)	HCN2 (G145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367280	NM_001194.4(HCN2):c.520G>T (p.Gly174Cys)	HCN2 (G174C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340860	NM_001194.4(HCN2):c.529A>G (p.Lys177Glu)	HCN2 (K177E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312219	NM_001194.4(HCN2):c.571C>T (p.Arg191Cys)	HCN2 (R191C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253475	NM_001194.4(HCN2):c.601G>A (p.Ala201Thr)	HCN2 (A201T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 2505990	NM_001194.4(HCN2):c.790C>T (p.Arg264Cys)	HCN2 (R264C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228724	NM_001194.4(HCN2):c.858T>C (p.Tyr286=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266553	NM_001194.4(HCN2):c.915C>T (p.Phe305=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268214	NM_001194.4(HCN2):c.921C>T (p.Ile307=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1277714	NM_001194.4(HCN2):c.963C>T (p.Arg321=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308206	NM_001194.4(HCN2):c.970C>T (p.Arg324Cys)	HCN2, LOC129391015 (R324C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1801945	NM_001194.4(HCN2):c.1001T>A (p.Leu334His)	HCN2, LOC129391015 (L334H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315002	NM_001194.4(HCN2):c.1106A>G (p.Asn369Ser)	HCN2 (N369S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1241053	NM_001194.4(HCN2):c.1167T>C (p.Pro389=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1226607	NM_001194.4(HCN2):c.1239G>C (p.Leu413=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3364395	NM_001194.4(HCN2):c.1279T>C (p.Cys427Arg)	HCN2 (C427R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305785	NM_001194.4(HCN2):c.1286G>A (p.Gly429Glu)	HCN2 (G429E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803354	NM_001194.4(HCN2):c.1291G>A (p.Gly431Ser)	HCN2 (G431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326485	NM_001194.4(HCN2):c.1367C>T (p.Ala456Val)	HCN2 (A456V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444686	NM_001194.4(HCN2):c.1400dup (p.Ser468fs)	HCN2 (S468fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2490332	NM_001194.4(HCN2):c.1420C>T (p.Arg474Cys)	HCN2 (R474C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2430960	NM_001194.4(HCN2):c.1421G>A (p.Arg474His)	HCN2 (R474H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315325	NM_001194.4(HCN2):c.1432_1434del (p.Glu478del)	HCN2 (E478del)	Deletion (inframe_deletion)	HCN2 related developmental and epileptic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 1183110	NM_001194.4(HCN2):c.1438-16C>G	HCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266604	NM_001194.4(HCN2):c.1452G>A (p.Glu484=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3369614	NM_001194.4(HCN2):c.1470C>G (p.His490Gln)	HCN2 (H490Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311850	NM_001194.4(HCN2):c.1504G>A (p.Asp502Asn)	HCN2 (D502N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663047	NM_001194.4(HCN2):c.1561G>A (p.Glu521Lys)	HCN2 (E521K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450172	NM_001194.4(HCN2):c.1571G>A (p.Gly524Glu)	HCN2 (G524E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 423436	NM_001194.4(HCN2):c.1628C>T (p.Pro543Leu)	HCN2 (P543L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331180	NM_001194.4(HCN2):c.1644C>T (p.Ala548=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1315206	NM_001194.4(HCN2):c.1792G>A (p.Glu598Lys)	HCN2 (E598K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430392	NM_001194.4(HCN2):c.1946G>C (p.Arg649Pro)	HCN2 (R649P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307476	NM_001194.4(HCN2):c.2020G>A (p.Val674Met)	HCN2 (V674M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303985	NM_001194.4(HCN2):c.2135G>A (p.Gly712Asp)	HCN2 (G712D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391673	NM_001194.4(HCN2):c.2167G>A (p.Val723Ile)	HCN2 (V723I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256857	NM_001194.4(HCN2):c.2253G>C (p.Ala751=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3370669	NM_001194.4(HCN2):c.2349_2368dup (p.Pro790fs)	HCN2 (P790fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2499800	NM_001194.4(HCN2):c.2584G>A (p.Asp862Asn)	HCN2 (D862N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368591	NM_001194.4(HCN2):c.2609G>A (p.Gly870Asp)	HCN2 (G870D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777339	NM_001194.4(HCN2):c.2625G>T (p.Leu875=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2662865	NM_001194.4(HCN2):c.2657C>G (p.Ser886Trp)	HCN2 (S886W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 47