"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KCTD7"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 640465	NC_000007.13:g.(?_66094032)_(66105401_?)dup	LOC129998533, LOC129998534 +2 more	Duplication	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2118466	NM_153033.5(KCTD7):c.9A>G (p.Val3=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2985451	NM_153033.5(KCTD7):c.12C>G (p.Val4=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 469099	NM_153033.5(KCTD7):c.14C>G (p.Thr5Arg)	KCTD7, LOC129998533 (T5R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 536952	NM_153033.5(KCTD7):c.15G>C (p.Thr5=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 664309	NM_153033.5(KCTD7):c.22G>A (p.Glu8Lys)	KCTD7, LOC129998533 (E8K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1405461	NM_153033.5(KCTD7):c.35G>C (p.Arg12Pro)	KCTD7, LOC129998533 (R12P)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1039678	NM_153033.5(KCTD7):c.35G>T (p.Arg12Leu)	KCTD7, LOC129998533 (R12L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1058123	NM_153033.5(KCTD7):c.45C>A (p.Asp15Glu)	KCTD7, LOC129998533 (D15E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1433781	NM_153033.5(KCTD7):c.46G>A (p.Gly16Ser)	KCTD7, LOC129998533 (G16S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 1002347	NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys)	KCTD7, LOC129998533 (G16C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 744115	NM_153033.5(KCTD7):c.51C>T (p.Ala17=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1063821	NM_153033.5(KCTD7):c.53T>A (p.Met18Lys)	KCTD7, LOC129998533 (M18K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 804972	NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala)	KCTD7, LOC129998533 (S21A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +2 more	GUncertain significance
Select item 722018	NM_153033.5(KCTD7):c.63T>C (p.Ser21=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1058725	NM_153033.5(KCTD7):c.64G>A (p.Asp22Asn)	KCTD7, LOC129998533 (D22N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 206013	NM_153033.5(KCTD7):c.68C>T (p.Ala23Val)	KCTD7, LOC129998533 (A23V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 747678	NM_153033.5(KCTD7):c.69C>G (p.Ala23=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1513406	NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly)	KCTD7, LOC129998533 (E24G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 206019	NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr)	KCTD7, LOC129998533 (D26Y)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2010977	NM_153033.5(KCTD7):c.77A>G (p.Asp26Gly)	KCTD7, LOC129998533 (D26G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1650639	NM_153033.5(KCTD7):c.81T>C (p.Phe27=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1551158	NM_153033.5(KCTD7):c.82C>T (p.Leu28=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1448883	NM_153033.5(KCTD7):c.89C>T (p.Pro30Leu)	KCTD7, LOC129998533 (P30L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1400157	NM_153033.5(KCTD7):c.98_109del (p.Pro33_Thr36del)	KCTD7, LOC129998533	Deletion (inframe_deletion)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 743009	NM_153033.5(KCTD7):c.90G>C (p.Pro30=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 566683	NM_153033.5(KCTD7):c.104_115del (p.Ala35_Ala38del)	KCTD7, LOC129998533	Deletion (inframe_deletion)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1961536	NM_153033.5(KCTD7):c.102G>A (p.Thr34=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 936396	NM_153033.5(KCTD7):c.107C>T (p.Thr36Met)	KCTD7, LOC129998533 (T36M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1999457	NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu)	KCTD7, LOC129998533 (Q37E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1621850	NM_153033.5(KCTD7):c.111G>A (p.Gln37=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1412672	NM_153033.5(KCTD7):c.113C>T (p.Ala38Val)	KCTD7, LOC129998533 (A38V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1133252	NM_153033.5(KCTD7):c.117G>A (p.Gly39=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1400114	NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro)	KCTD7, LOC129998533 (A41P)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 936004	NM_153033.5(KCTD7):c.121G>A (p.Ala41Thr)	KCTD7, LOC129998533 (A41T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1615227	NM_153033.5(KCTD7):c.123G>T (p.Ala41=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2722390	NM_153033.5(KCTD7):c.130dup (p.Leu44fs)	KCTD7, LOC129998533 (L44fs)	Duplication (frameshift variant)	Progressive myoclonic epilepsy type 3	GPathogenic
Select item 1991699	NM_153033.5(KCTD7):c.128C>T (p.Pro43Leu)	KCTD7, LOC129998533 (P43L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2911825	NM_153033.5(KCTD7):c.129C>T (p.Pro43=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 388566	NM_153033.5(KCTD7):c.132G>A (p.Leu44=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129369	NM_153033.5(KCTD7):c.133C>T (p.Leu45=)	LOC129998533, KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1452460	NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter)	KCTD7, LOC129998533 (Q47*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy type 3	GPathogenic
Select item 1430598	NM_153033.5(KCTD7):c.141G>C (p.Gln47His)	KCTD7, LOC129998533 (Q47H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2150901	NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly)	KCTD7, LOC129998533 (E48G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1396723	NM_153033.5(KCTD7):c.144G>A (p.Glu48=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1197265	NM_153033.5(KCTD7):c.144+3A>G	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 1004579	NM_153033.5(KCTD7):c.144+4C>G	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 656995	NM_153033.5(KCTD7):c.144+4C>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 3019935	NM_153033.5(KCTD7):c.144+8GGCGGGC[3]	KCTD7, LOC129998533	Microsatellite (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2785780	NM_153033.5(KCTD7):c.144+7G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1117186	NM_153033.5(KCTD7):c.144+9del	KCTD7, LOC129998533	Deletion (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2847129	NM_153033.5(KCTD7):c.144+8G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2916750	NM_153033.5(KCTD7):c.144+21_144+27dup	KCTD7, LOC129998533	Duplication (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2701208	NM_153033.5(KCTD7):c.144+15G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1967644	NM_153033.5(KCTD7):c.144+18G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 668683	NM_153033.5(KCTD7):c.144+19G>A	KCTD7, LOC129998533	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 584347	NC_000007.13:g.(?_66098242)_(66098451_?)dup	KCTD7	Duplication	Progressive myoclonic epilepsy type 3	GLikely pathogenic
Select item 2785843	NM_153033.5(KCTD7):c.145-19C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2202517	NM_153033.5(KCTD7):c.145-19C>G	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1625984	NM_153033.5(KCTD7):c.145-17T>A	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1569543	NM_153033.5(KCTD7):c.145-15G>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 3008500	NM_153033.5(KCTD7):c.145-5del	KCTD7	Deletion (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2964218	NM_153033.5(KCTD7):c.145-6T>C	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 536956	NM_153033.5(KCTD7):c.145-4C>T	KCTD7	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 520584	NM_153033.5(KCTD7):c.145-2A>G	KCTD7	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 589052	NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu)	KCTD7 (F49L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1345313	NM_153033.5(KCTD7):c.147T>G (p.Phe49Leu)	KCTD7 (F49L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 971928	NM_153033.5(KCTD7):c.148C>G (p.Pro50Ala)	KCTD7 (P50A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1476776	NM_153033.5(KCTD7):c.152A>T (p.Glu51Val)	KCTD7 (E51V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1441182	NM_153033.5(KCTD7):c.153G>T (p.Glu51Asp)	KCTD7 (E51D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1470709	NM_153033.5(KCTD7):c.154G>T (p.Val52Phe)	KCTD7 (V52F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1470183	NM_153033.5(KCTD7):c.158T>C (p.Val53Ala)	KCTD7 (V53A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 697359	NM_153033.5(KCTD7):c.168C>T (p.Asn56=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GLikely benign
Select item 2153202	NM_153033.5(KCTD7):c.169A>G (p.Ile57Val)	KCTD7 (I57V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1196997	NM_153033.5(KCTD7):c.171C>T (p.Ile57=)	KCTD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 469100	NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg)	KCTD7 (G58R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 2806066	NM_153033.5(KCTD7):c.177G>T (p.Gly59=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1423573	NM_153033.5(KCTD7):c.181C>G (p.His61Asp)	KCTD7 (H61D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 911917	NM_153033.5(KCTD7):c.181C>T (p.His61Tyr)	KCTD7 (H61Y)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 1432167	NM_153033.5(KCTD7):c.182A>G (p.His61Arg)	KCTD7 (H61R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 937090	NM_153033.5(KCTD7):c.188C>T (p.Thr63Ile)	KCTD7 (T63I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 195417	NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)	KCTD7 (T64A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 206007	NM_153033.5(KCTD7):c.192A>G (p.Thr64=)	KCTD7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 206011	NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys)	KCTD7 (R65C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1061554	NM_153033.5(KCTD7):c.195C>T (p.Arg65=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 762713	NM_153033.5(KCTD7):c.204A>C (p.Thr68=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 2021748	NM_153033.5(KCTD7):c.205C>T (p.Leu69=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1046937	NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)	KCTD7 (R70W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 847364	NM_153033.5(KCTD7):c.209G>A (p.Arg70Gln)	KCTD7 (R70Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1672183	NM_153033.5(KCTD7):c.216C>T (p.Tyr72=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 855614	NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys)	KCTD7 (E73K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 1950810	NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile)	KCTD7 (T75I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1008485	NM_153033.5(KCTD7):c.226A>G (p.Met76Val)	KCTD7 (M76V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1372843	NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe)	KCTD7 (L77F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 1995340	NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr)	KCTD7 (A79T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 469101	NM_153033.5(KCTD7):c.238A>G (p.Met80Val)	KCTD7 (M80V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 841460	NM_153033.5(KCTD7):c.239T>C (p.Met80Thr)	KCTD7 (M80T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 469102	NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)	KCTD7 (R84W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 848103	NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)	KCTD7 (R84Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2776987	NM_153033.5(KCTD7):c.252G>A (p.Arg84=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign

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