"Ambry Genetics"[submitter] AND "KCTD7"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 206019	NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr)	KCTD7, LOC129998533 (D26Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	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 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)	Progressive myoclonic epilepsy type 3 +2 more	GUncertain significance
Select item 697359	NM_153033.5(KCTD7):c.168C>T (p.Asn56=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1779954	NM_153033.5(KCTD7):c.177G>A (p.Gly59=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 911917	NM_153033.5(KCTD7):c.181C>T (p.His61Tyr)	KCTD7 (H61Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1781306	NM_153033.5(KCTD7):c.185_186delinsCT (p.Phe62Ser)	KCTD7 (F62S)	Indel (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 195417	NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)	KCTD7 (T64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206007	NM_153033.5(KCTD7):c.192A>G (p.Thr64=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 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 1788922	NM_153033.5(KCTD7):c.227T>C (p.Met76Thr)	KCTD7 (M76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206012	NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)	KCTD7 (Y86H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129370	NM_153033.5(KCTD7):c.267G>A (p.Thr89=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 206008	NM_153033.5(KCTD7):c.273C>T (p.Ser91=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1388792	NM_153033.5(KCTD7):c.274G>A (p.Glu92Lys)	KCTD7 (E92K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 206020	NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)	KCTD7 (R121L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 138057	NM_153033.5(KCTD7):c.384G>A (p.Glu128=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2609057	NM_153033.5(KCTD7):c.392A>T (p.Tyr131Phe)	KCTD7 (Y131F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588758	NM_153033.5(KCTD7):c.430A>G (p.Met144Val)	KCTD7 (M144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1099930	NM_153033.5(KCTD7):c.439C>T (p.Leu147=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GLikely benign
Select item 206006	NM_153033.5(KCTD7):c.507G>C (p.Arg169=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 835977	NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp)	KCTD7 (R175W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 36926	NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)	KCTD7 (R184C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
Select item 1751989	NM_153033.5(KCTD7):c.616C>G (p.Leu206Val)	KCTD7 (L206V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 129371	NM_153033.5(KCTD7):c.654C>T (p.Asp218=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 138054	NM_153033.5(KCTD7):c.687T>C (p.Asp229=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1108574	NM_153033.5(KCTD7):c.723T>G (p.Val241=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1758506	NM_153033.5(KCTD7):c.735G>T (p.Leu245=)	KCTD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 520953	NM_153033.5(KCTD7):c.754C>G (p.Leu252Val)	KCTD7 (L252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 589876	NM_153033.5(KCTD7):c.774C>T (p.Thr258=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +1 more	GLikely benign

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Items: 34