ClinVar for MedGen (Select 436997) - ClinVar

Links from MedGen

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627493	NM_004700.4(KCNQ4):c.1573G>A (p.Asp525Asn)	KCNQ4 (D471N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 2585201	NM_004700.4(KCNQ4):c.232A>T (p.Lys78Ter)	KCNQ4 (K78*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 2440965	NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)	KCNQ4 (Q122*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 2A	GLikely pathogenic
Select item 2433031	NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)	KCNQ4 (V566D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 2261256	NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)	KCNQ4 (G162E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2064839	NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)	KCNQ4 (L226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1806181	NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)	KCNQ4 (W224R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 1709664	NM_004700.4(KCNQ4):c.799T>G (p.Phe267Val)	KCNQ4 (F267V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 1699203	NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg)	KCNQ4 (W276R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GLikely pathogenic
Select item 1687686	NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp)	KCNQ4 (R394W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1566888	NM_004700.4(KCNQ4):c.1232G>A (p.Arg411His)	KCNQ4 (R411H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +1 more	GConflicting classifications of pathogenicity
Select item 1465186	NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln)	KCNQ4 (R401Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1437818	NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup)	KCNQ4	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1339804	NM_004700.4(KCNQ4):c.1502C>T (p.Thr501Ile)	KCNQ4 (T447I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	Gnot provided
Select item 1312296	NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu)	KCNQ4 (S229L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 1304466	NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His)	KCNQ4 (R446H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1297718	NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp)	KCNQ4 (G222D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +1 more	GUncertain significance
Select item 1201537	NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His)	KCNQ4 (R434H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1199646	NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly)	KCNQ4 (S423G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1187613	NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu)	KCNQ4 (P403L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1184480	NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser)	KCNQ4 (Y286S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GLikely pathogenic
Select item 1049775	NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr)	KCNQ4 (I140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1032259	NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met)	KCNQ4 (T522M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 979187	NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)	KCNQ4 (G287S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GLikely pathogenic
Select item 944908	NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)	KCNQ4 (Q480* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929965	NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 730845	NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)	KCNQ4 (P59L)	Single nucleotide variant (missense variant)	KCNQ4-related condition +2 more	GBenign/Likely benign
Select item 667252	NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 666707	NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys)	KCNQ4 (R411C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 625441	NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del)	KCNQ4	Deletion (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 593390	NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)	KCNQ4 (R420Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 591002	NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr)	KCNQ4 (D266Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 585006	NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)	KCNQ4 (L47P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 505423	NM_004700.4(KCNQ4):c.946-12C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 504606	NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 504605	NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val)	KCNQ4 (A506V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 504604	NM_004700.4(KCNQ4):c.735G>A (p.Gly245=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +3 more	GLikely benign
Select item 504603	NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)	KCNQ4 (G228C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 259521	NM_004700.4(KCNQ4):c.315-18C>T	KCNQ4	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign
Select item 259519	NM_004700.4(KCNQ4):c.315-16C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 228774	NM_004700.4(KCNQ4):c.946-3T>A	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 228770	NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile)	KCNQ4 (V511I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 228769	NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly)	KCNQ4 (E398G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 227466	NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GLikely benign
Select item 227465	NM_004700.4(KCNQ4):c.1292+12G>A	KCNQ4	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign/Likely benign
Select item 226687	NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 208373	NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe)	KCNQ4 (S680F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208372	NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs)	KCNQ4	Deletion (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 208371	NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser)	KCNQ4 (R297S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208370	NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)	KCNQ4 (P291L)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 208369	NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser)	KCNQ4 (P291S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 208368	NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg)	KCNQ4 (W275R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 208367	NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His)	KCNQ4 (Y270H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 208366	NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)	KCNQ4 (S269del)	Microsatellite (inframe_deletion)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 208365	NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu)	KCNQ4 (V230E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 208364	NM_004700.4(KCNQ4):c.228_229dup (p.His77fs)	KCNQ4 (H77fs)	Microsatellite (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 178690	NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg)	KCNQ4 (G277R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 178388	NM_004700.4(KCNQ4):c.465A>C (p.Gly155=)	KCNQ4	Single nucleotide variant (synonymous variant)	KCNQ4-related condition +3 more	GBenign/Likely benign
Select item 178387	NM_004700.4(KCNQ4):c.438G>A (p.Glu146=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 163756	NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu)	KCNQ4 (D606E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 163755	NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 163754	NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr)	KCNQ4 (M442T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 163753	NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg)	KCNQ4 (S423R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 163750	NM_004700.4(KCNQ4):c.972G>A (p.Leu324=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 156337	NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)	KCNQ4 (G287R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 65893	NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter)	KCNQ4 (W242*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 65888	c.667_684del(664_681del)		Deletion	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 45108	NM_004700.4(KCNQ4):c.879A>G (p.Thr293=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 45107	NM_004700.4(KCNQ4):c.873G>A (p.Pro291=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 45106	NM_004700.4(KCNQ4):c.841T>C (p.Leu281=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 45105	NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 45104	NM_004700.4(KCNQ4):c.708+14G>C	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 45103	NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 45102	NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 45101	NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln)	KCNQ4 (H455Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 45100	NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)	KCNQ4	Single nucleotide variant (synonymous variant +1 more)	KCNQ4-related condition +3 more	GBenign/Likely benign
Select item 21427	NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val)	KCNQ4 (D262V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 21426	NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys)	KCNQ4 (E260K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21425	NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21424	NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)	KCNQ4, LOC129930282 (F182L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 21423	NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A	Gnot provided
Select item 6249	NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser)	KCNQ4 (G296S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 6248	NM_004700.4(KCNQ4):c.211del (p.Gln71fs)	KCNQ4 (Q71fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 6247	NM_004700.4(KCNQ4):c.821T>A (p.Leu274His)	KCNQ4 (L274H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 6246	NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)	KCNQ4 (L281S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +1 more	GPathogenic
Select item 6245	NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)	KCNQ4 (Q71fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 6244	NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)	KCNQ4 (G285C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6243	NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)	KCNQ4 (G321S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 6242	NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)	KCNQ4 (W276S)	Single nucleotide variant (missense variant)	Rare genetic deafness	GPathogenic
Select item 6241	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	KCNQ4 (G285S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database

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Items: 90