ClinVar for Gene (Select 84243) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334241	NM_032283.3(ZDHHC18):c.157A>G (p.Ser53Gly)	ZDHHC18 (S53G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192684	NM_032283.3(ZDHHC18):c.899C>T (p.Thr300Met)	ZDHHC18 (T300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192683	NM_032283.3(ZDHHC18):c.783G>C (p.Leu261Phe)	ZDHHC18 (L261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192681	NM_032283.3(ZDHHC18):c.289A>C (p.Thr97Pro)	ZDHHC18 (T97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192680	NM_032283.3(ZDHHC18):c.127C>T (p.Pro43Ser)	LOC129929844, ZDHHC18 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063122	GRCh37/hg19 1p36.11(chr1:27014190-27179034)x3	ARID1A, PIGV +1 more	Copy number gain	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2612298	NM_032283.3(ZDHHC18):c.41C>T (p.Ala14Val)	LOC129929844, ZDHHC18 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608386	NM_032283.3(ZDHHC18):c.680A>G (p.Asn227Ser)	ZDHHC18 (N227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600460	NM_032283.3(ZDHHC18):c.967G>A (p.Gly323Ser)	ZDHHC18 (G323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596270	NM_032283.3(ZDHHC18):c.265G>C (p.Gly89Arg)	ZDHHC18 (G89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590882	NM_032283.3(ZDHHC18):c.715G>A (p.Ala239Thr)	ZDHHC18 (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513066	NM_032283.3(ZDHHC18):c.185T>A (p.Leu62His)	ZDHHC18 (L62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462975	NM_032283.3(ZDHHC18):c.650G>A (p.Arg217Gln)	ZDHHC18 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456044	NM_032283.3(ZDHHC18):c.880G>A (p.Gly294Ser)	ZDHHC18 (G294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2409568	NM_032283.3(ZDHHC18):c.1087G>A (p.Val363Met)	ZDHHC18 (V363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383922	NM_032283.3(ZDHHC18):c.538C>T (p.Arg180Trp)	ZDHHC18 (R180W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350528	NM_032283.3(ZDHHC18):c.787G>A (p.Ala263Thr)	ZDHHC18 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348880	NM_032283.3(ZDHHC18):c.478G>A (p.Ala160Thr)	ZDHHC18 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313744	NM_032283.3(ZDHHC18):c.101G>A (p.Gly34Asp)	LOC129929844, ZDHHC18 (G34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300214	NM_032283.3(ZDHHC18):c.812C>G (p.Thr271Ser)	ZDHHC18 (T271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277981	NM_032283.3(ZDHHC18):c.454C>T (p.Arg152Trp)	ZDHHC18 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273496	NM_032283.3(ZDHHC18):c.311C>T (p.Thr104Ile)	ZDHHC18 (T104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248426	NM_032283.3(ZDHHC18):c.364C>T (p.Leu122Phe)	ZDHHC18 (L122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246240	NM_032283.3(ZDHHC18):c.122C>T (p.Ala41Val)	LOC129929844, ZDHHC18 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236338	NM_032283.3(ZDHHC18):c.142T>G (p.Trp48Gly)	LOC129929844, ZDHHC18 (W48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231686	NM_032283.3(ZDHHC18):c.148A>C (p.Ser50Arg)	LOC129929844, ZDHHC18 (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231685	NM_032283.3(ZDHHC18):c.145A>G (p.Ser49Gly)	LOC129929844, ZDHHC18 (S49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229698	NM_032283.3(ZDHHC18):c.130G>C (p.Ala44Pro)	LOC129929844, ZDHHC18 (A44P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527725	GRCh37/hg19 1p36.11(chr1:27119557-27547784)	GPATCH3, GPN2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1412090	NC_000001.10:g.(?_27117307)_(27480825_?)dup	ZDHHC18, GPATCH3 +9 more	Duplication	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38