6299[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 2854702	NM_019842.4(KCNQ5):c.2T>C (p.Met1Thr)	KCNQ5, KCNQ5-DT +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2442450	NM_019842.4(KCNQ5):c.8_10del (p.Arg3del)	KCNQ5, KCNQ5-DT +1 more (R3del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 932587	NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser)	KCNQ5, KCNQ5-DT +1 more (R3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2982623	NM_019842.4(KCNQ5):c.8G>T (p.Arg3Leu)	KCNQ5, KCNQ5-DT +1 more (R3L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2573709	NM_019842.4(KCNQ5):c.14A>G (p.His5Arg)	KCNQ5, KCNQ5-DT +1 more (H5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787570	NM_019842.4(KCNQ5):c.15C>T (p.His5=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319294	NM_019842.4(KCNQ5):c.15C>G (p.His5Gln)	KCNQ5, KCNQ5-DT +1 more (H5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047165	NM_019842.4(KCNQ5):c.18G>C (p.Ala6=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358048	NM_019842.4(KCNQ5):c.19G>A (p.Gly7Arg)	KCNQ5, KCNQ5-DT +1 more (G7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975566	NM_019842.4(KCNQ5):c.22G>A (p.Gly8Arg)	KCNQ5, KCNQ5-DT +1 more (G8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1363916	NM_019842.4(KCNQ5):c.23G>A (p.Gly8Glu)	KCNQ5, KCNQ5-DT +1 more (G8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797627	NM_019842.4(KCNQ5):c.33C>T (p.Gly11=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780871	NM_019842.4(KCNQ5):c.36C>T (p.Gly12=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915031	NM_019842.4(KCNQ5):c.37G>A (p.Ala13Thr)	KCNQ5, KCNQ5-DT +1 more (A13T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1506060	NM_019842.4(KCNQ5):c.41C>T (p.Ala14Val)	KCNQ5, KCNQ5-DT +1 more (A14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857400	NM_019842.4(KCNQ5):c.42C>G (p.Ala14=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765015	NM_019842.4(KCNQ5):c.42C>T (p.Ala14=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001161	NM_019842.4(KCNQ5):c.43G>C (p.Gly15Arg)	KCNQ5, KCNQ5-DT +1 more (G15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582630	NM_019842.4(KCNQ5):c.45G>T (p.Gly15=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932094	NM_019842.4(KCNQ5):c.49T>C (p.Trp17Arg)	KCNQ5-DT, LOC129996711 +1 more (W17R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GUncertain significance
Select item 2752272	NM_019842.4(KCNQ5):c.51G>A (p.Trp17Ter)	KCNQ5, KCNQ5-DT +1 more (W17*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1616998	NM_019842.4(KCNQ5):c.51G>C (p.Trp17Cys)	LOC129996711, KCNQ5-DT +1 more (W17C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1358144	NM_019842.4(KCNQ5):c.61G>T (p.Gly21Cys)	KCNQ5, KCNQ5-DT +1 more (G21C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907979	NM_019842.4(KCNQ5):c.66_68dup (p.Ala27_Gly28insAla)	KCNQ5, KCNQ5-DT +1 more	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2785706	NM_019842.4(KCNQ5):c.64G>T (p.Ala22Ser)	KCNQ5, KCNQ5-DT +1 more (A22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059772	NM_019842.4(KCNQ5):c.68CGG[8] (p.Ala27_Gly28insAlaAlaAla)	KCNQ5, KCNQ5-DT +1 more	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1651986	NM_019842.4(KCNQ5):c.68CGG[6] (p.Ala27dup)	KCNQ5, KCNQ5-DT +1 more	Microsatellite (inframe_insertion)	KCNQ5-related disorder +1 more	GLikely benign
Select item 1551116	NM_019842.4(KCNQ5):c.68CGG[7] (p.Ala26_Ala27dup)	KCNQ5, KCNQ5-DT +1 more	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1376071	NM_019842.4(KCNQ5):c.76G>A (p.Ala26Thr)	KCNQ5, KCNQ5-DT +1 more (A26T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 545927	NM_019842.4(KCNQ5):c.80_87del (p.Ala27fs)	LOC129996711, KCNQ5 +1 more (A27fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1719601	NM_019842.4(KCNQ5):c.82G>C (p.Gly28Arg)	KCNQ5, KCNQ5-DT +1 more (G28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809936	NM_019842.4(KCNQ5):c.84dup (p.Gly29fs)	KCNQ5, KCNQ5-DT +1 more (G29fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2985020	NM_019842.4(KCNQ5):c.84C>T (p.Gly28=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230111	NM_019842.4(KCNQ5):c.85G>A (p.Gly29Arg)	KCNQ5, KCNQ5-DT +1 more (G29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335629	NM_019842.4(KCNQ5):c.85G>T (p.Gly29Trp)	KCNQ5, KCNQ5-DT +1 more (G29W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656695	NM_019842.4(KCNQ5):c.87G>A (p.Gly29=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376073	NM_019842.4(KCNQ5):c.89G>A (p.Gly30Glu)	KCNQ5, KCNQ5-DT +1 more (G30E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2980166	NM_019842.4(KCNQ5):c.90G>A (p.Gly30=)	LOC129996711, KCNQ5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564694	NM_019842.4(KCNQ5):c.90G>T (p.Gly30=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186061	NM_019842.4(KCNQ5):c.102C>T (p.Ser34=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006551	NM_019842.4(KCNQ5):c.105C>T (p.Gly35=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575970	NM_019842.4(KCNQ5):c.106A>C (p.Met36Leu)	KCNQ5, KCNQ5-DT +1 more (M36L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470478	NM_019842.4(KCNQ5):c.107T>A (p.Met36Lys)	KCNQ5, KCNQ5-DT +1 more (M36K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1310055	NM_019842.4(KCNQ5):c.116T>C (p.Val39Ala)	LOC129996711, KCNQ5 +1 more (V39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022476	NM_019842.4(KCNQ5):c.123_124delinsGA (p.Gly42Ser)	KCNQ5, KCNQ5-DT +1 more (G42S)	Indel (missense variant)	not provided	GUncertain significance
Select item 1221367	NM_019842.4(KCNQ5):c.123C>G (p.Ser41=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 46 +1 more	GBenign
Select item 1921965	NM_019842.4(KCNQ5):c.127C>G (p.Arg43Gly)	KCNQ5, KCNQ5-DT +1 more (R43G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2979848	NM_019842.4(KCNQ5):c.128G>C (p.Arg43Pro)	KCNQ5, KCNQ5-DT +1 more (R43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828806	NM_019842.4(KCNQ5):c.131G>A (p.Gly44Asp)	KCNQ5, KCNQ5-DT (G44D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544318	NM_019842.4(KCNQ5):c.139C>T (p.Leu47=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653103	NM_019842.4(KCNQ5):c.147C>T (p.Asn49=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423206	NM_019842.4(KCNQ5):c.149C>T (p.Ser50Leu)	KCNQ5, KCNQ5-DT (S50L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1609187	NM_019842.4(KCNQ5):c.156C>T (p.Ala52=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518475	NM_019842.4(KCNQ5):c.157G>A (p.Ala53Thr)	KCNQ5, KCNQ5-DT (A53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358475	NM_019842.4(KCNQ5):c.157G>T (p.Ala53Ser)	KCNQ5, KCNQ5-DT (A53S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3113473	NM_019842.4(KCNQ5):c.158C>T (p.Ala53Val)	KCNQ5, KCNQ5-DT (A53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1373994	NM_019842.4(KCNQ5):c.161G>A (p.Arg54Lys)	KCNQ5, KCNQ5-DT (R54K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634306	NM_019842.4(KCNQ5):c.162G>A (p.Arg54=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640141	NM_019842.4(KCNQ5):c.164G>T (p.Gly55Val)	KCNQ5, KCNQ5-DT (G55V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1535722	NM_019842.4(KCNQ5):c.165C>A (p.Gly55=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998250	NM_019842.4(KCNQ5):c.175C>T (p.Leu59=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312331	NM_019842.4(KCNQ5):c.184G>C (p.Gly62Arg)	KCNQ5, KCNQ5-DT (G62R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1388701	NM_019842.4(KCNQ5):c.186C>T (p.Gly62=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1554338	NM_019842.4(KCNQ5):c.192C>A (p.Arg64=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539007	NM_019842.4(KCNQ5):c.192C>T (p.Arg64=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356469	NM_019842.4(KCNQ5):c.194C>T (p.Ala65Val)	KCNQ5, KCNQ5-DT (A65V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899259	NM_019842.4(KCNQ5):c.198C>A (p.Ala66=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534208	NM_019842.4(KCNQ5):c.199A>G (p.Thr67Ala)	KCNQ5, KCNQ5-DT (T67A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230190	NM_019842.4(KCNQ5):c.199A>T (p.Thr67Ser)	KCNQ5, KCNQ5-DT (T67S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2011376	NM_019842.4(KCNQ5):c.200C>G (p.Thr67Arg)	KCNQ5, KCNQ5-DT (T67R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1601671	NM_019842.4(KCNQ5):c.204C>G (p.Leu68=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1500571	NM_019842.4(KCNQ5):c.207_209dup (p.Gly74dup)	KCNQ5, KCNQ5-DT	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1239045	NM_019842.4(KCNQ5):c.204C>T (p.Leu68=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	KCNQ5-related disorder +2 more	GBenign
Select item 2965588	NM_019842.4(KCNQ5):c.205G>A (p.Gly69Ser)	KCNQ5, KCNQ5-DT (G69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475379	NM_019842.4(KCNQ5):c.212G>A (p.Gly71Asp)	KCNQ5, KCNQ5-DT (G71D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991371	NM_019842.4(KCNQ5):c.214G>A (p.Gly72Ser)	KCNQ5, KCNQ5-DT (G72S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237814	NM_019842.4(KCNQ5):c.217G>A (p.Gly73Ser)	KCNQ5, KCNQ5-DT (G73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2097684	NM_019842.4(KCNQ5):c.219T>C (p.Gly73=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800668	NM_019842.4(KCNQ5):c.224_238del (p.Leu75_Arg79del)	KCNQ5, KCNQ5-DT	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2955864	NM_019842.4(KCNQ5):c.224T>G (p.Leu75Arg)	KCNQ5, KCNQ5-DT (L75R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538278	NM_019842.4(KCNQ5):c.224T>C (p.Leu75Pro)	KCNQ5, KCNQ5-DT (L75P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1547391	NM_019842.4(KCNQ5):c.225G>C (p.Leu75=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480621	NM_019842.4(KCNQ5):c.231G>C (p.Glu77Asp)	KCNQ5, KCNQ5-DT (E77D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596038	NM_019842.4(KCNQ5):c.233G>C (p.Ser78Thr)	KCNQ5, KCNQ5-DT (S78T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1649830	NM_019842.4(KCNQ5):c.236G>T (p.Arg79Leu)	KCNQ5-DT, KCNQ5 (R79L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2417220	NM_019842.4(KCNQ5):c.238C>A (p.Arg80=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013510	NM_019842.4(KCNQ5):c.238C>T (p.Arg80Trp)	KCNQ5, KCNQ5-DT (R80W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2628769	NM_019842.4(KCNQ5):c.244A>T (p.Lys82Ter)	KCNQ5, KCNQ5-DT (K82*)	Single nucleotide variant (nonsense)	KCNQ5-related disorder	GUncertain significance
Select item 2834923	NM_019842.4(KCNQ5):c.248A>C (p.Gln83Pro)	KCNQ5, KCNQ5-DT (Q83P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1711630	NM_019842.4(KCNQ5):c.249G>T (p.Gln83His)	KCNQ5, KCNQ5-DT (Q83H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087649	NM_019842.4(KCNQ5):c.253G>A (p.Ala85Thr)	KCNQ5, KCNQ5-DT (A85T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019738	NM_019842.4(KCNQ5):c.256C>A (p.Arg86=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004680	NM_019842.4(KCNQ5):c.268C>T (p.Leu90=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220891	NM_019842.4(KCNQ5):c.273del (p.Lys92fs)	KCNQ5, KCNQ5-DT (K92fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 46	GLikely pathogenic
Select item 2706159	NM_019842.4(KCNQ5):c.271G>T (p.Gly91Trp)	KCNQ5, KCNQ5-DT (G91W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759519	NM_019842.4(KCNQ5):c.277C>T (p.Pro93Ser)	KCNQ5, KCNQ5-DT (P93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875400	NM_019842.4(KCNQ5):c.282C>T (p.Leu94=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361599	NM_019842.4(KCNQ5):c.282_291del (p.Ser95fs)	KCNQ5, KCNQ5-DT (S95fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1013511	NM_019842.4(KCNQ5):c.282C>G (p.Leu94=)	KCNQ5, KCNQ5-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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