154881[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic
Select item 150828	GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3	ASL, CRCP +35 more	Copy number gain	See cases	GLikely benign
Select item 669802	NM_153033.4(KCTD7):c.-443G>C	KCTD7	Single nucleotide variant	not provided	GLikely benign
Select item 670913	NM_153033.4(KCTD7):c.-277G>C	KCTD7, LOC129998533	Single nucleotide variant	not provided	GLikely benign
Select item 360576	NM_153033.5(KCTD7):c.-181T>G	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 360577	NM_153033.5(KCTD7):c.-170G>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 360578	NM_153033.5(KCTD7):c.-155G>C	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 360579	NM_153033.5(KCTD7):c.-145C>G	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 676036	NM_153033.5(KCTD7):c.-116C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3 +1 more	GBenign/Likely benign
Select item 360580	NM_153033.5(KCTD7):c.-94C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 909791	NM_153033.5(KCTD7):c.-90G>A	LOC129998533, KCTD7	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 360581	NM_153033.5(KCTD7):c.-87A>C	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 360582	NM_153033.5(KCTD7):c.-69C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 910694	NM_153033.5(KCTD7):c.-55C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 138056	NM_153033.5(KCTD7):c.-49C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3 +1 more	GBenign/Likely benign
Select item 360583	NM_153033.5(KCTD7):c.-46C>G	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 388866	NM_153033.5(KCTD7):c.-45G>A	LOC129998533, KCTD7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 360584	NM_153033.5(KCTD7):c.-44C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 515044	NM_153033.5(KCTD7):c.-32C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 420135	NM_153033.5(KCTD7):c.-29del	KCTD7, LOC129998533	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 558953	NM_153033.5(KCTD7):c.-24C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 640465	NC_000007.13:g.(?_66094032)_(66105401_?)dup	KCTD7, LOC129998533 +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=)	LOC129998533, KCTD7	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)	Progressive myoclonic epilepsy type 3 +1 more	GLikely benign
Select item 360585	NM_153033.5(KCTD7):c.18G>C (p.Gly6=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1002347	NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys)	LOC129998533, KCTD7 (G16C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance
Select item 379209	NM_153033.5(KCTD7):c.48T>G (p.Gly16=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 747678	NM_153033.5(KCTD7):c.69C>G (p.Ala23=)	LOC129998533, KCTD7	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)	LOC129998533, KCTD7	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 1755144	NM_153033.5(KCTD7):c.122C>G (p.Ala41Gly)	KCTD7, LOC129998533 (A41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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=)	LOC129998533, KCTD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129369	NM_153033.5(KCTD7):c.133C>T (p.Leu45=)	KCTD7, LOC129998533	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 206014	NM_153033.5(KCTD7):c.140A>G (p.Gln47Arg)	KCTD7, LOC129998533 (Q47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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	LOC129998533, KCTD7	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 672976	NM_153033.5(KCTD7):c.144+165C>A	KCTD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263494	NM_153033.5(KCTD7):c.144+269C>T	KCTD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190380	NM_153033.5(KCTD7):c.145-285G>A	KCTD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209528	NM_153033.5(KCTD7):c.145-36G>A	KCTD7	Single nucleotide variant (intron variant)	not provided	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

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