KCNQ5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2873033	NM_019842.4(KCNQ5):c.399-14T>C	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955985	NM_019842.4(KCNQ5):c.399-8T>C	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577092	NM_019842.4(KCNQ5):c.407T>A (p.Leu136His)	KCNQ5 (L136H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2743760	NM_019842.4(KCNQ5):c.408T>G (p.Leu136=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716771	NM_019842.4(KCNQ5):c.410T>C (p.Val137Ala)	KCNQ5 (V137A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393919	NM_019842.4(KCNQ5):c.424A>G (p.Ile142Val)	KCNQ5 (I142V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431385	NM_019842.4(KCNQ5):c.434T>G (p.Val145Gly)	KCNQ5 (V145G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GPathogenic
Select item 2798189	NM_019842.4(KCNQ5):c.471A>G (p.Ser157=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526970	NM_019842.4(KCNQ5):c.472A>G (p.Ser158Gly)	KCNQ5 (S158G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511494	NM_019842.4(KCNQ5):c.473G>A (p.Ser158Asn)	KCNQ5 (S158N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2714486	NM_019842.4(KCNQ5):c.477C>T (p.Cys159=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932588	NM_019842.4(KCNQ5):c.482T>C (p.Leu161Ser)	KCNQ5 (L161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299033	NM_019842.4(KCNQ5):c.486C>T (p.Ile162=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831898	NM_019842.4(KCNQ5):c.489+10dup	KCNQ5	Duplication (intron variant)	not provided	GLikely benign
Select item 2810387	NM_019842.4(KCNQ5):c.489+11C>A	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130628	NM_019842.4(KCNQ5):c.489+19A>G	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073218	NM_019842.4(KCNQ5):c.490-20T>C	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975711	NM_019842.4(KCNQ5):c.490-17C>A	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972718	NM_019842.4(KCNQ5):c.490-15dup	KCNQ5	Duplication (intron variant)	not provided	GLikely benign
Select item 2021267	NM_019842.4(KCNQ5):c.490-9A>G	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045071	NM_019842.4(KCNQ5):c.495C>T (p.Phe165=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719424	NM_019842.4(KCNQ5):c.501G>T (p.Met167Ile)	KCNQ5 (M167I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978947	NM_019842.4(KCNQ5):c.508G>A (p.Val170Ile)	KCNQ5 (V170I)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 2749659	NM_019842.4(KCNQ5):c.519G>T (p.Leu173Phe)	KCNQ5 (L173F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931402	NM_019842.4(KCNQ5):c.522G>C (p.Glu174Asp)	KCNQ5 (E174D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GUncertain significance
Select item 1928626	NM_019842.4(KCNQ5):c.526A>G (p.Ile176Val)	KCNQ5 (I176V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 523807	NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter)	KCNQ5 (R178*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 46 +1 more	GPathogenic/Likely pathogenic
Select item 2500718	NM_019842.4(KCNQ5):c.545C>T (p.Ala182Val)	KCNQ5 (A182V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GLikely pathogenic
Select item 1335630	NM_019842.4(KCNQ5):c.546G>A (p.Ala182=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1615304	NM_019842.4(KCNQ5):c.555T>C (p.Cys185=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033899	NM_019842.4(KCNQ5):c.558T>C (p.Cys186=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121310	NM_019842.4(KCNQ5):c.559C>T (p.Arg187Ter)	KCNQ5 (R187*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1334356	NM_019842.4(KCNQ5):c.560G>A (p.Arg187Gln)	KCNQ5 (R187Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1299034	NM_019842.4(KCNQ5):c.576A>G (p.Gln192=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693071	NM_019842.4(KCNQ5):c.582A>G (p.Arg194=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813654	NM_019842.4(KCNQ5):c.585G>A (p.Leu195=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1475451	NM_019842.4(KCNQ5):c.587G>A (p.Arg196Lys)	KCNQ5 (R196K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1624895	NM_019842.4(KCNQ5):c.594T>C (p.Ala198=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343361	NM_019842.4(KCNQ5):c.595C>T (p.Arg199Ter)	KCNQ5 (R199*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1363209	NM_019842.4(KCNQ5):c.596G>A (p.Arg199Gln)	KCNQ5 (R199Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603642	NM_019842.4(KCNQ5):c.616+8T>C	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740182	NM_019842.4(KCNQ5):c.616+10A>G	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580705	NM_019842.4(KCNQ5):c.616+14T>C	KCNQ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1937121	NM_019842.4(KCNQ5):c.616+17C>T	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833802	NM_019842.4(KCNQ5):c.616+18A>G	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656696	NM_019842.4(KCNQ5):c.616+1023G>T	KCNQ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656697	NM_019842.4(KCNQ5):c.616+1025A>T	KCNQ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695160	NM_019842.4(KCNQ5):c.616+1094G>A	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579004	NM_019842.4(KCNQ5):c.616+1125A>G	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656698	NM_019842.4(KCNQ5):c.616+1157A>G	KCNQ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658117	NM_019842.4(KCNQ5):c.617-17C>T	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557636	NM_019842.4(KCNQ5):c.617-16G>A	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641196	NM_019842.4(KCNQ5):c.617-8T>C	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958831	NM_019842.4(KCNQ5):c.618T>C (p.Asp206=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911743	NM_019842.4(KCNQ5):c.623T>C (p.Ile208Thr)	KCNQ5 (I208T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946442	NM_019842.4(KCNQ5):c.626T>C (p.Val209Ala)	KCNQ5 (V209A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965643	NM_019842.4(KCNQ5):c.633C>T (p.Ile211=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789016	NM_019842.4(KCNQ5):c.641T>C (p.Ile214Thr)	KCNQ5 (I214T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2793965	NM_019842.4(KCNQ5):c.642_645del (p.Ile214fs)	KCNQ5 (I214fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3371180	NM_019842.4(KCNQ5):c.647T>C (p.Val216Ala)	KCNQ5 (V216A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994085	NM_019842.4(KCNQ5):c.667G>A (p.Gly223Ser)	KCNQ5 (G223S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341135	NM_019842.4(KCNQ5):c.671A>T (p.Asn224Ile)	KCNQ5 (N224I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616879	NM_019842.4(KCNQ5):c.681C>G (p.Ala227=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836672	NM_019842.4(KCNQ5):c.684G>T (p.Thr228=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065330	NM_019842.4(KCNQ5):c.684G>A (p.Thr228=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576528	NM_019842.4(KCNQ5):c.688G>A (p.Ala230Thr)	KCNQ5 (A230T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GUncertain significance
Select item 1597454	NM_019842.4(KCNQ5):c.690A>G (p.Ala230=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642028	NM_019842.4(KCNQ5):c.703C>T (p.Arg235Cys)	KCNQ5 (R235C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2861767	NM_019842.4(KCNQ5):c.705T>A (p.Arg235=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548362	NM_019842.4(KCNQ5):c.705T>C (p.Arg235=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003113	NM_019842.4(KCNQ5):c.711A>G (p.Leu237=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844979	NM_019842.4(KCNQ5):c.721C>T (p.Arg241Cys)	KCNQ5 (R241C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898573	NM_019842.4(KCNQ5):c.722G>A (p.Arg241His)	KCNQ5 (R241H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685901	NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys)	KCNQ5 (R244C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GConflicting classifications of pathogenicity
Select item 2876968	NM_019842.4(KCNQ5):c.739C>T (p.Arg247Ter)	KCNQ5 (R247*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2778214	NM_019842.4(KCNQ5):c.740G>A (p.Arg247Gln)	KCNQ5 (R247Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2902114	NM_019842.4(KCNQ5):c.750C>T (p.Gly250=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1253854	NM_019842.4(KCNQ5):c.767G>C (p.Gly256Ala)	KCNQ5 (G256A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571253	NM_019842.4(KCNQ5):c.769del (p.Ser257fs)	KCNQ5 (S257fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1721995	NM_019842.4(KCNQ5):c.770C>T (p.Ser257Leu)	KCNQ5 (S257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583648	NM_019842.4(KCNQ5):c.771A>C (p.Ser257=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545359	NM_019842.4(KCNQ5):c.782C>T (p.Ala261Val)	KCNQ5 (A261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104243	NM_019842.4(KCNQ5):c.792+13C>A	KCNQ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630885	NM_019842.4(KCNQ5):c.793-13del	KCNQ5	Deletion (intron variant)	not provided	GLikely benign
Select item 1675172	NM_019842.4(KCNQ5):c.824dup (p.Leu275fs)	KCNQ5 (L275fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 46	GPathogenic
Select item 1630314	NM_019842.4(KCNQ5):c.831T>C (p.Leu277=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530154	NM_019842.4(KCNQ5):c.834T>A (p.Ile278=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898088	NM_019842.4(KCNQ5):c.837T>C (p.Phe279=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530393	NM_019842.4(KCNQ5):c.840G>A (p.Ser280=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655770	NM_019842.4(KCNQ5):c.846C>T (p.Phe282=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063568	NM_019842.4(KCNQ5):c.847C>T (p.Leu283Phe)	KCNQ5 (L283F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GUncertain significance
Select item 2831940	NM_019842.4(KCNQ5):c.850G>A (p.Val284Ile)	KCNQ5 (V284I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338600	NM_019842.4(KCNQ5):c.858G>T (p.Leu286=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1803787	NM_019842.4(KCNQ5):c.860T>C (p.Val287Ala)	KCNQ5 (V287A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GUncertain significance
Select item 2360155	NM_019842.4(KCNQ5):c.871G>A (p.Ala291Thr)	KCNQ5 (A291T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988749	NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)	KCNQ5 (N292S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GLikely pathogenic
Select item 2877981	NM_019842.4(KCNQ5):c.876T>C (p.Asn292=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798838	NM_019842.4(KCNQ5):c.877A>G (p.Lys293Glu)	KCNQ5 (K293E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951886	NM_019842.4(KCNQ5):c.894T>C (p.Tyr298=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341373	NM_019842.4(KCNQ5):c.896C>T (p.Ala299Val)	KCNQ5 (A299V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GUncertain significance

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