"GeneDx"[submitter] AND "KCTD1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 60206	GRCh38/hg38 18q11.2(chr18:24411993-26628123)x3	LINC01894, LINC01915 +57 more	Copy number gain	See cases	GUncertain significance
Select item 1236096	NM_001142730.3(KCTD1):c.*49CAAA[1]	KCTD1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1245415	NM_001142730.3(KCTD1):c.*32A>G	KCTD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1243729	NM_001142730.3(KCTD1):c.2517C>T (p.Ser839=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1232178	NM_001142730.3(KCTD1):c.2440-46_2440-40del	KCTD1	Deletion (intron variant)	not provided	GBenign
Select item 1232468	NM_001142730.3(KCTD1):c.2440-80T>C	KCTD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282752	NM_001142730.3(KCTD1):c.2439+95T>G	KCTD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307491	NM_001142730.3(KCTD1):c.2384C>T (p.Ser795Leu)	KCTD1 (S187L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702577	NM_001142730.3(KCTD1):c.2261G>C (p.Arg754Pro)	KCTD1 (R146P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259028	NM_001142730.3(KCTD1):c.2134-76del	KCTD1	Deletion (intron variant)	not provided	GBenign
Select item 1246609	NM_001142730.3(KCTD1):c.2134-111G>C	KCTD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179533	NM_001142730.3(KCTD1):c.2134-134C>T	KCTD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232802	NM_001142730.3(KCTD1):c.2134-165A>G	KCTD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663072	NM_001142730.3(KCTD1):c.2048A>G (p.Tyr683Cys)	KCTD1 (Y683C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280853	NM_001142730.3(KCTD1):c.1921C>T (p.His641Tyr)	KCTD1 (H33Y +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2502774	NM_001142730.3(KCTD1):c.1681G>A (p.Glu561Lys)	KCTD1 (E561K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1265608	NM_001142730.3(KCTD1):c.1188G>A (p.Ser396=)	KCTD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1263905	NM_001142730.3(KCTD1):c.267GGA[3] (p.Glu96del)	KCTD1, LOC130062327 (E96del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 253969	GRCh37/hg19 18q11.2(chr18:23923277-24089282)x3	TAF4B, KCTD1	Copy number gain	See cases	GUncertain significance
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 22