KCTD8[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 3113671	NM_198353.3(KCTD8):c.1381C>T (p.Arg461Cys)	KCTD8 (R461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531474	NM_198353.3(KCTD8):c.1375C>T (p.Arg459Cys)	KCTD8 (R459C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113670	NM_198353.3(KCTD8):c.1312G>A (p.Glu438Lys)	KCTD8 (E438K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287856	NM_198353.3(KCTD8):c.1213G>A (p.Asp405Asn)	KCTD8 (D405N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113668	NM_198353.3(KCTD8):c.1210C>A (p.Pro404Thr)	KCTD8 (P404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312616	NM_198353.3(KCTD8):c.1204C>T (p.Pro402Ser)	KCTD8 (P402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238121	NM_198353.3(KCTD8):c.1171C>T (p.Arg391Cys)	KCTD8 (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287859	NM_198353.3(KCTD8):c.1136C>T (p.Ala379Val)	KCTD8 (A379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288313	NM_198353.3(KCTD8):c.1114A>G (p.Asn372Asp)	KCTD8 (N372D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 2514729	NM_198353.3(KCTD8):c.893C>T (p.Thr298Ile)	KCTD8 (T298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612106	NM_198353.3(KCTD8):c.784C>T (p.Pro262Ser)	KCTD8 (P262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287858	NM_198353.3(KCTD8):c.772C>A (p.Pro258Thr)	KCTD8 (P258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334134	NM_198353.3(KCTD8):c.760G>C (p.Glu254Gln)	KCTD8 (E254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329679	NM_198353.3(KCTD8):c.748G>A (p.Asp250Asn)	KCTD8 (D250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113674	NM_198353.3(KCTD8):c.722T>G (p.Ile241Ser)	KCTD8 (I241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410555	NM_198353.3(KCTD8):c.649T>C (p.Tyr217His)	KCTD8 (Y217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324539	NM_198353.3(KCTD8):c.607G>T (p.Asp203Tyr)	KCTD8 (D203Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600587	NM_198353.3(KCTD8):c.575C>T (p.Ala192Val)	KCTD8 (A192V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569367	NM_198353.3(KCTD8):c.557T>C (p.Val186Ala)	KCTD8 (V186A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313323	NM_198353.3(KCTD8):c.487A>G (p.Ser163Gly)	KCTD8 (S163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113673	NM_198353.3(KCTD8):c.479G>T (p.Gly160Val)	KCTD8 (G160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346377	NM_198353.3(KCTD8):c.410T>A (p.Phe137Tyr)	KCTD8 (F137Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681349	NM_198353.3(KCTD8):c.387G>T (p.Arg129=)	KCTD8	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3287857	NM_198353.3(KCTD8):c.364G>C (p.Glu122Gln)	KCTD8 (E122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113672	NM_198353.3(KCTD8):c.364G>A (p.Glu122Lys)	KCTD8 (E122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281551	NM_198353.3(KCTD8):c.331G>T (p.Asp111Tyr)	KCTD8 (D111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360724	NM_198353.3(KCTD8):c.218T>C (p.Met73Thr)	KCTD8 (M73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380883	NM_198353.3(KCTD8):c.214A>G (p.Ser72Gly)	KCTD8 (S72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217424	NM_198353.3(KCTD8):c.164A>C (p.Tyr55Ser)	KCTD8 (Y55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113669	NM_198353.3(KCTD8):c.121C>T (p.Pro41Ser)	KCTD8 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211259	NM_198353.3(KCTD8):c.92C>T (p.Ala31Val)	KCTD8 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287860	NM_198353.3(KCTD8):c.65C>G (p.Ser22Trp)	KCTD8 (S22W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527083	GRCh37/hg19 4p13(chr4:43040044-44507764)	KCTD8	Copy number loss	not specified	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814546	GRCh37/hg19 4p13-12(chr4:42626603-45438191)x1	YIPF7, GRXCR1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562908	GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3	COX7B2, GABRG1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 52