ZDHHC5[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3192750	NM_015457.3(ZDHHC5):c.29A>C (p.Lys10Thr)	ZDHHC5 (K10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293094	NM_015457.3(ZDHHC5):c.43G>A (p.Val15Ile)	ZDHHC5 (V15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752215	NM_015457.3(ZDHHC5):c.84G>A (p.Thr28=)	ZDHHC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2342940	NM_015457.3(ZDHHC5):c.133C>G (p.Pro45Ala)	ZDHHC5 (P45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334270	NM_015457.3(ZDHHC5):c.155C>T (p.Ala52Val)	ZDHHC5 (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222490	NM_015457.3(ZDHHC5):c.182A>G (p.Asn61Ser)	ZDHHC5 (N61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192751	NM_015457.3(ZDHHC5):c.308T>C (p.Met103Thr)	ZDHHC5 (M103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192752	NM_015457.3(ZDHHC5):c.328C>T (p.Arg110Cys)	ZDHHC5 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396979	NM_015457.3(ZDHHC5):c.541G>A (p.Val181Ile)	ZDHHC5 (V181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192753	NM_015457.3(ZDHHC5):c.605G>A (p.Gly202Asp)	ZDHHC5 (G202D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192754	NM_015457.3(ZDHHC5):c.680G>A (p.Gly227Glu)	ZDHHC5 (G227E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367177	NM_015457.3(ZDHHC5):c.821C>T (p.Ser274Leu)	ZDHHC5 (S274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337227	NM_015457.3(ZDHHC5):c.836C>G (p.Thr279Ser)	ZDHHC5 (T279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339646	NM_015457.3(ZDHHC5):c.864G>C (p.Gln288His)	ZDHHC5 (Q288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192755	NM_015457.3(ZDHHC5):c.913A>G (p.Ser305Gly)	ZDHHC5 (S305G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192756	NM_015457.3(ZDHHC5):c.923C>T (p.Ala308Val)	ZDHHC5 (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192737	NM_015457.3(ZDHHC5):c.1040C>T (p.Pro347Leu)	ZDHHC5 (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267627	NM_015457.3(ZDHHC5):c.1052T>C (p.Met351Thr)	ZDHHC5 (M351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334267	NM_015457.3(ZDHHC5):c.1063C>T (p.Arg355Trp)	ZDHHC5 (R355W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455003	NM_015457.3(ZDHHC5):c.1079G>T (p.Ser360Ile)	ZDHHC5 (S360I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192738	NM_015457.3(ZDHHC5):c.1103C>T (p.Pro368Leu)	ZDHHC5 (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192739	NM_015457.3(ZDHHC5):c.1115G>T (p.Ser372Ile)	ZDHHC5 (S372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334266	NM_015457.3(ZDHHC5):c.1129C>T (p.Arg377Cys)	ZDHHC5 (R377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541776	NM_015457.3(ZDHHC5):c.1154C>T (p.Thr385Ile)	ZDHHC5 (T385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192740	NM_015457.3(ZDHHC5):c.1159A>G (p.Ile387Val)	ZDHHC5 (I387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192741	NM_015457.3(ZDHHC5):c.1165G>C (p.Glu389Gln)	ZDHHC5 (E389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550729	NM_015457.3(ZDHHC5):c.1170C>G (p.Ser390Arg)	ZDHHC5 (S390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521708	NM_015457.3(ZDHHC5):c.1241A>G (p.Lys414Arg)	ZDHHC5 (K414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273838	NM_015457.3(ZDHHC5):c.1330C>G (p.Gln444Glu)	ZDHHC5 (Q444E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381840	NM_015457.3(ZDHHC5):c.1339C>T (p.Arg447Cys)	ZDHHC5 (R447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192742	NM_015457.3(ZDHHC5):c.1390C>T (p.Arg464Cys)	ZDHHC5 (R464C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192743	NM_015457.3(ZDHHC5):c.1453G>A (p.Val485Met)	ZDHHC5 (V485M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334268	NM_015457.3(ZDHHC5):c.1468G>A (p.Glu490Lys)	ZDHHC5 (E490K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476746	NM_015457.3(ZDHHC5):c.1573C>T (p.His525Tyr)	ZDHHC5 (H525Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276463	NM_015457.3(ZDHHC5):c.1600G>A (p.Asp534Asn)	ZDHHC5 (D534N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192744	NM_015457.3(ZDHHC5):c.1610C>T (p.Ser537Leu)	ZDHHC5 (S537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411408	NM_015457.3(ZDHHC5):c.1624G>A (p.Ala542Thr)	ZDHHC5 (A542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310290	NM_015457.3(ZDHHC5):c.1627T>C (p.Ser543Pro)	ZDHHC5 (S543P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192746	NM_015457.3(ZDHHC5):c.1631T>A (p.Leu544His)	ZDHHC5 (L544H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205161	NM_015457.3(ZDHHC5):c.1762G>C (p.Asp588His)	ZDHHC5 (D588H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192747	NM_015457.3(ZDHHC5):c.1763A>G (p.Asp588Gly)	ZDHHC5 (D588G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221668	NM_015457.3(ZDHHC5):c.1784T>C (p.Leu595Ser)	ZDHHC5 (L595S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334269	NM_015457.3(ZDHHC5):c.1789A>C (p.Lys597Gln)	ZDHHC5 (K597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192748	NM_015457.3(ZDHHC5):c.1845G>T (p.Arg615Ser)	ZDHHC5 (R615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192749	NM_015457.3(ZDHHC5):c.1898G>A (p.Arg633Gln)	ZDHHC5 (R633Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236516	NM_015457.3(ZDHHC5):c.1907C>A (p.Ser636Tyr)	ZDHHC5 (S636Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1076333	NC_000011.9:g.(?_57235082)_(57467503_?)del	CLP1, MIR130A +8 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 62