KCTD1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 167

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
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 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 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 2048230	NM_001142730.3(KCTD1):c.2566G>A (p.Val856Ile)	KCTD1 (V248I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2474719	NM_001142730.3(KCTD1):c.2561C>T (p.Pro854Leu)	KCTD1 (P246L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113588	NM_001142730.3(KCTD1):c.2560C>T (p.Pro854Ser)	KCTD1 (P246S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113587	NM_001142730.3(KCTD1):c.2555G>A (p.Arg852His)	KCTD1 (R244H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479045	NM_001142730.3(KCTD1):c.2554C>T (p.Arg852Cys)	KCTD1 (R252C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287792	NM_001142730.3(KCTD1):c.2549C>T (p.Thr850Met)	KCTD1 (T850M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2973468	NM_001142730.3(KCTD1):c.2545C>T (p.Arg849Trp)	KCTD1 (R249W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2767191	NM_001142730.3(KCTD1):c.2533C>T (p.Arg845Trp)	KCTD1 (R245W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1925435	NM_001142730.3(KCTD1):c.2531G>A (p.Arg844Gln)	KCTD1 (R236Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243729	NM_001142730.3(KCTD1):c.2517C>T (p.Ser839=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2894369	NM_001142730.3(KCTD1):c.2505G>C (p.Ser835=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043865	NM_001142730.3(KCTD1):c.2481C>T (p.Gly827=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919018	NM_001142730.3(KCTD1):c.2476G>A (p.Val826Met)	KCTD1 (V826M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763892	NM_001142730.3(KCTD1):c.2475C>T (p.Ile825=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287794	NM_001142730.3(KCTD1):c.2446G>A (p.Glu816Lys)	KCTD1 (E208K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2977665	NM_001142730.3(KCTD1):c.2445C>T (p.Leu815=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610839	NM_001142730.3(KCTD1):c.2440-11T>C	KCTD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937221	NM_001142730.3(KCTD1):c.2440-12G>T	KCTD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007161	NM_001142730.3(KCTD1):c.2440-15C>T	KCTD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916965	NM_001142730.3(KCTD1):c.2440-17G>T	KCTD1	Single nucleotide variant (intron 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 2917589	NM_001142730.3(KCTD1):c.2414G>C (p.Gly805Ala)	KCTD1 (G197A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515330	NM_001142730.3(KCTD1):c.2387C>T (p.Thr796Met)	KCTD1 (T796M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2375492	NM_001142730.3(KCTD1):c.2357C>G (p.Ser786Cys)	KCTD1 (S186C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1511465	NM_001142730.3(KCTD1):c.2339del (p.Gly780fs)	KCTD1 (G780fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2603369	NM_001142730.3(KCTD1):c.2338G>A (p.Gly780Ser)	KCTD1 (G780S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3016713	NM_001142730.3(KCTD1):c.2304C>T (p.Asp768=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167578	NM_001142730.3(KCTD1):c.2277C>T (p.Leu759=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250660	NM_001142730.3(KCTD1):c.2261G>A (p.Arg754His)	KCTD1 (R146H +2 more)	Single nucleotide variant (missense variant)	not provided	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 3113586	NM_001142730.3(KCTD1):c.2257G>A (p.Val753Met)	KCTD1 (V145M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2869587	NM_001142730.3(KCTD1):c.2243G>A (p.Cys748Tyr)	KCTD1 (C140Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336407	NM_001142730.3(KCTD1):c.2242T>C (p.Cys748Arg)	KCTD1 (C748R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720931	NM_001142730.3(KCTD1):c.2181C>T (p.Pro727=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2901009	NM_001142730.3(KCTD1):c.2163A>T (p.Lys721Asn)	KCTD1 (K721N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761637	NM_001142730.3(KCTD1):c.2134-7T>C	KCTD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897921	NM_001142730.3(KCTD1):c.2134-14T>G	KCTD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2175670	NM_001142730.3(KCTD1):c.2133+4A>G	KCTD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3254677	NM_001142730.3(KCTD1):c.2056G>C (p.Asp686His)	KCTD1 (D686H +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GLikely pathogenic
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 55887	NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)	KCTD1 (H74P +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 235827	NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)	KCTD1 (D69E +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55888	NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)	KCTD1 (G62D +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GLikely pathogenic
Select item 2553360	NM_001142730.3(KCTD1):c.1976A>G (p.Tyr659Cys)	KCTD1 (Y51C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722232	NM_001142730.3(KCTD1):c.1935C>T (p.Gly645=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 55885	NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)	KCTD1 (H33Q +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55886	NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)	KCTD1 (H33P +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
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 55884	NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)	KCTD1 (P31H +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55883	NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)	KCTD1 (P31L +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55882	NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)	KCTD1 (P31R +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 2416307	NM_001142730.3(KCTD1):c.1914G>A (p.Ala638=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 55881	NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)	KCTD1 (A30E +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 2170842	NM_001142730.3(KCTD1):c.1907C>G (p.Ser636Cys)	KCTD1 (S28C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2433049	NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)	KCTD1 (P20T +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GUncertain significance
Select item 235828	NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser)	KCTD1 (P20S +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 2559367	NM_001142730.3(KCTD1):c.1861C>G (p.Pro621Ala)	KCTD1 (P621A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1600074	NM_001142730.3(KCTD1):c.1809+835A>G	KCTD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042305	NM_001142730.3(KCTD1):c.1791T>C (p.Ala597=)	KCTD1	Single nucleotide variant (synonymous variant +1 more)	KCTD1-related disorder	GLikely benign
Select item 3113585	NM_001142730.3(KCTD1):c.1682A>G (p.Glu561Gly)	KCTD1 (E561G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2558522	NM_001142730.3(KCTD1):c.1663C>T (p.Leu555Phe)	KCTD1 (L555F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231392	NM_001142730.3(KCTD1):c.1658A>G (p.Lys553Arg)	KCTD1 (K553R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287801	NM_001142730.3(KCTD1):c.1655C>G (p.Pro552Arg)	KCTD1 (P552R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569362	NM_001142730.3(KCTD1):c.1648A>T (p.Thr550Ser)	KCTD1 (T550S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3113584	NM_001142730.3(KCTD1):c.1635A>C (p.Glu545Asp)	KCTD1 (E545D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3287793	NM_001142730.3(KCTD1):c.1633G>A (p.Glu545Lys)	KCTD1 (E545K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035828	NM_001142730.3(KCTD1):c.1623C>T (p.Phe541=)	KCTD1	Single nucleotide variant (synonymous variant +1 more)	KCTD1-related disorder	GLikely benign
Select item 2370979	NM_001142730.3(KCTD1):c.1616C>A (p.Ser539Tyr)	KCTD1 (S539Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536634	NM_001142730.3(KCTD1):c.1595C>T (p.Pro532Leu)	KCTD1 (P532L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287797	NM_001142730.3(KCTD1):c.1549C>T (p.Pro517Ser)	KCTD1 (P517S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494495	NM_001142730.3(KCTD1):c.1510C>T (p.Arg504Cys)	KCTD1 (R504C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287790	NM_001142730.3(KCTD1):c.1493A>C (p.His498Pro)	KCTD1 (H498P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345499	NM_001142730.3(KCTD1):c.1487C>T (p.Pro496Leu)	KCTD1 (P496L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257203	NM_001142730.3(KCTD1):c.1443C>A (p.Ala481=)	KCTD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 2