"GeneDx"[submitter] AND "KCTD7"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 379209	NM_153033.5(KCTD7):c.48T>G (p.Gly16=)	KCTD7, LOC129998533	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 206014	NM_153033.5(KCTD7):c.140A>G (p.Gln47Arg)	KCTD7, LOC129998533 (Q47R)	Single nucleotide variant (missense variant)	not provided	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 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 589052	NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu)	KCTD7 (F49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 450495	NM_153033.5(KCTD7):c.160C>T (p.Pro54Ser)	KCTD7 (P54S)	Single nucleotide variant (missense variant)	not provided	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 195417	NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)	KCTD7 (T64A)	Single nucleotide variant (missense variant)	not specified +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 provided +3 more	GBenign/Likely benign
Select item 206011	NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys)	KCTD7 (R65C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 855614	NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys)	KCTD7 (E73K)	Single nucleotide variant (missense variant)	not provided +1 more	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 206012	NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)	KCTD7 (Y86H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +2 more	GConflicting classifications of pathogenicity
Select item 129370	NM_153033.5(KCTD7):c.267G>A (p.Thr89=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +3 more	GBenign
Select item 206008	NM_153033.5(KCTD7):c.273C>T (p.Ser91=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +3 more	GConflicting classifications of pathogenicity
Select item 384144	NM_153033.5(KCTD7):c.291C>T (p.Ile97=)	KCTD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 670664	NM_153033.5(KCTD7):c.314+51G>A	KCTD7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178556	NM_153033.5(KCTD7):c.314+166dup	KCTD7	Duplication (intron variant)	not provided	GLikely benign
Select item 1197865	NM_153033.5(KCTD7):c.314+166del	KCTD7	Deletion (intron variant)	not provided	GLikely benign
Select item 558954	NM_153033.5(KCTD7):c.315-24C>T	KCTD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388309	NM_153033.5(KCTD7):c.315-10T>C	KCTD7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1000932	NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys)	KCTD7 (R112C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 206015	NM_153033.5(KCTD7):c.335G>A (p.Arg112His)	KCTD7 (R112H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 469103	NM_153033.5(KCTD7):c.361C>T (p.Arg121Cys)	KCTD7 (R121C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 469104	NM_153033.5(KCTD7):c.362G>A (p.Arg121His)	KCTD7 (R121H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 1196485	NM_153033.5(KCTD7):c.368G>T (p.Arg123Leu)	KCTD7 (R123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 360586	NM_153033.5(KCTD7):c.369A>C (p.Arg123=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 938692	NM_153033.5(KCTD7):c.371C>G (p.Ala124Gly)	KCTD7 (A124G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138057	NM_153033.5(KCTD7):c.384G>A (p.Glu128=)	KCTD7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 378040	NM_153033.5(KCTD7):c.387C>T (p.Ala129=)	KCTD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 360587	NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg)	KCTD7 (G135R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206009	NM_153033.5(KCTD7):c.444G>T (p.Lys148Asn)	KCTD7 (K148N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 206010	NM_153033.5(KCTD7):c.447C>T (p.Gly149=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 206004	NM_153033.5(KCTD7):c.456G>A (p.Val152=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 383306	NM_153033.5(KCTD7):c.489C>T (p.Tyr163=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GLikely benign
Select item 381065	NM_153033.5(KCTD7):c.493+13T>A	KCTD7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262690	NM_153033.5(KCTD7):c.493+18_493+21dup	KCTD7	Duplication (intron variant)	not specified +2 more	GBenign
Select item 670885	NM_153033.5(KCTD7):c.493+57G>C	KCTD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682434	NM_153033.5(KCTD7):c.494-149G>C	KCTD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423509	NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln)	KCTD7 (R169Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206006	NM_153033.5(KCTD7):c.507G>C (p.Arg169=)	KCTD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 908986	NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln)	KCTD7 (R175Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206016	NM_153033.5(KCTD7):c.536_543del (p.Val179fs)	KCTD7 (V179fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1188828	NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp)	KCTD7 (R181W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 36926	NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)	KCTD7 (R184C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 388868	NM_153033.5(KCTD7):c.594C>T (p.Pro198=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GLikely benign
Select item 382609	NM_153033.5(KCTD7):c.606T>C (p.Tyr202=)	KCTD7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 502314	NM_153033.5(KCTD7):c.621C>A (p.Leu207=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 379332	NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)	KCTD7 (R211*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy type 3 +2 more	GPathogenic
Select item 935018	NM_153033.5(KCTD7):c.641G>A (p.Arg214Gln)	KCTD7 (R214Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 129371	NM_153033.5(KCTD7):c.654C>T (p.Asp218=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +3 more	GBenign
Select item 138054	NM_153033.5(KCTD7):c.687T>C (p.Asp229=)	KCTD7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 206017	NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser)	KCTD7 (W235S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 197381	NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)	KCTD7 (G265R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1304793	NM_153033.5(KCTD7):c.824A>G (p.Tyr275Cys)	KCTD7 (Y275C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427810	NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys)	KCTD7 (Y276C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 379630	NM_153033.5(KCTD7):c.*8C>T	KCTD7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385564	NM_153033.5(KCTD7):c.*9G>A	KCTD7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 138055	NM_153033.5(KCTD7):c.*9G>T	KCTD7	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 3 +1 more	GBenign
Select item 360600	NM_153033.5(KCTD7):c.*944C>G	KCTD7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 360601	NM_153033.5(KCTD7):c.*979C>A	KCTD7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1187257	NM_153033.5(KCTD7):c.*1145T>C	KCTD7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 386881	NM_153033.5(KCTD7):c.*1154T>C	KCTD7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 253379	GRCh37/hg19 7q11.21(chr7:66103208-66105624)x3	KCTD7	Copy number gain	See cases	GPathogenic

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Items: 82