ZDHHC24[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 431734	GRCh38/hg38 11q13.2(chr11:66507369-66525103)	ZDHHC24, LOC130006125 +2 more	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431735	GRCh38/hg38 11q13.2(chr11:66520912-66526178)	BBS1, ZDHHC24	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1248380	NM_024649.5(BBS1):c.724-305C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2718015	NM_024649.5(BBS1):c.724-20T>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2890715	NM_024649.5(BBS1):c.724-18T>C	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2755741	NM_024649.5(BBS1):c.724-17dup	BBS1, ZDHHC24	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2751342	NM_024649.5(BBS1):c.724-18T>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2915112	NM_024649.5(BBS1):c.724-17G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 261752	NM_024649.5(BBS1):c.724-16C>T	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2977708	NM_024649.5(BBS1):c.724-15G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1388172	NM_024649.5(BBS1):c.724-15G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2915113	NM_024649.5(BBS1):c.724-13T>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2772833	NM_024649.5(BBS1):c.724-8_724-6del	BBS1, ZDHHC24	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 705068	NM_024649.5(BBS1):c.724-9T>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 865945	NM_024649.5(BBS1):c.724-8_726del	BBS1, ZDHHC24	Deletion (3 prime UTR variant +1 more)	BBS1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 96131	NM_024649.5(BBS1):c.724-8G>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 1392027	NM_024649.5(BBS1):c.724-5T>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2746129	NM_024649.5(BBS1):c.724-4G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 552356	NM_024649.5(BBS1):c.724-1G>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3260529	NM_024649.5(BBS1):c.725T>A (p.Met242Lys)	BBS1, ZDHHC24 (M242K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 969824	NM_024649.5(BBS1):c.725T>C (p.Met242Thr)	BBS1, ZDHHC24 (M242T)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 283883	NM_024649.5(BBS1):c.726G>A (p.Met242Ile)	BBS1, ZDHHC24 (M242I)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 2850561	NM_024649.5(BBS1):c.729C>T (p.Ser243=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1398377	NM_024649.5(BBS1):c.729C>A (p.Ser243Arg)	BBS1, ZDHHC24 (S243R)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1421562	NM_024649.5(BBS1):c.731T>C (p.Leu244Pro)	BBS1, ZDHHC24 (L244P)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 3347539	NM_024649.5(BBS1):c.733C>G (p.Pro245Ala)	BBS1, ZDHHC24 (P245A)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 1726456	NM_024649.5(BBS1):c.734_735del (p.Pro245fs)	BBS1, ZDHHC24 (P245fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 970728	NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)	BBS1, ZDHHC24 (P245L)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 704966	NM_024649.5(BBS1):c.738C>T (p.Ser246=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2124165	NM_024649.5(BBS1):c.739G>C (p.Val247Leu)	ZDHHC24, BBS1 (V247L)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 863198	NM_024649.5(BBS1):c.739G>A (p.Val247Ile)	BBS1, ZDHHC24 (V247I)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 990065	NM_024649.5(BBS1):c.742C>A (p.Pro248Thr)	BBS1, ZDHHC24 (P248T)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 434480	NM_024649.5(BBS1):c.744C>T (p.Pro248=)	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1405783	NM_024649.5(BBS1):c.745G>A (p.Val249Ile)	BBS1, ZDHHC24 (V249I)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder +2 more	GUncertain significance
Select item 2747397	NM_024649.5(BBS1):c.747_748del (p.Phe250fs)	BBS1, ZDHHC24 (F250fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 771819	NM_024649.5(BBS1):c.750C>T (p.Phe250=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2885564	NM_024649.5(BBS1):c.751C>T (p.Leu251=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 966229	NM_024649.5(BBS1):c.751C>G (p.Leu251Val)	BBS1, ZDHHC24 (L251V)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1299581	NM_024649.5(BBS1):c.752del (p.Leu251fs)	BBS1, ZDHHC24 (L251fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GPathogenic
Select item 1411069	NM_024649.5(BBS1):c.756G>C (p.Glu252Asp)	ZDHHC24, BBS1 (E252D)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 812224	NM_024649.5(BBS1):c.767del (p.Gln256fs)	BBS1, ZDHHC24 (Q256fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2837479	NM_024649.5(BBS1):c.768G>C (p.Gln256His)	BBS1, ZDHHC24 (Q256H)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1079213	NM_024649.5(BBS1):c.771T>C (p.Phe257=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 934549	NM_024649.5(BBS1):c.771T>G (p.Phe257Leu)	BBS1, ZDHHC24 (F257L)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 289320	NM_024649.5(BBS1):c.772G>C (p.Asp258His)	ZDHHC24, BBS1 (D258H)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 3350483	NM_024649.5(BBS1):c.775G>T (p.Val259Phe)	BBS1, ZDHHC24 (V259F)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 522419	NM_024649.5(BBS1):c.777del (p.Glu260fs)	BBS1, ZDHHC24 (E260fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1666934	NM_024649.5(BBS1):c.777T>C (p.Val259=)	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3018534	NM_024649.5(BBS1):c.780G>A (p.Glu260=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2862708	NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2105991	NM_024649.5(BBS1):c.783C>T (p.Phe261=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3352418	NM_024649.5(BBS1):c.784C>T (p.Arg262Trp)	BBS1, ZDHHC24 (R262W)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 1946482	NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)	BBS1, ZDHHC24 (R262Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 370225	NM_024649.5(BBS1):c.786del (p.Ala264fs)	BBS1, ZDHHC24 (A264fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3240863	NM_024649.5(BBS1):c.795_804dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3352997	NM_024649.5(BBS1):c.795_804del (p.Ala266fs)	BBS1, ZDHHC24 (A266fs)	Deletion (3 prime UTR variant +1 more)	BBS1-related disorder	GLikely pathogenic
Select item 3133148	NM_024649.5(BBS1):c.790G>C (p.Ala264Pro)	BBS1, ZDHHC24 (A264P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1139599	NM_024649.5(BBS1):c.792C>T (p.Ala264=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3356611	NM_024649.5(BBS1):c.793G>T (p.Ala265Ser)	BBS1, ZDHHC24 (A265S)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 2039229	NM_024649.5(BBS1):c.793G>A (p.Ala265Thr)	BBS1, ZDHHC24 (A265T)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2049802	NM_024649.5(BBS1):c.794C>T (p.Ala265Val)	BBS1, ZDHHC24 (A265V)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 412285	NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)	BBS1, ZDHHC24 (A265E)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2836346	NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1409442	NM_024649.5(BBS1):c.795G>A (p.Ala265=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 591548	NM_024649.5(BBS1):c.796_800del (p.Ala266fs)	BBS1, ZDHHC24 (A266fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 742764	NM_024649.5(BBS1):c.798C>G (p.Ala266=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3356631	NM_024649.5(BBS1):c.800G>T (p.Cys267Phe)	BBS1, ZDHHC24 (C267F)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 1336076	NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)	BBS1, ZDHHC24 (R268C)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 288064	NM_024649.5(BBS1):c.803G>A (p.Arg268His)	BBS1, ZDHHC24 (R268H)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 3350419	NM_024649.5(BBS1):c.806A>G (p.Asn269Ser)	BBS1, ZDHHC24 (N269S)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 1490603	NM_024649.5(BBS1):c.808G>A (p.Gly270Arg)	BBS1, ZDHHC24 (G270R)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3344441	NM_024649.5(BBS1):c.816C>G (p.Ile272Met)	BBS1, ZDHHC24 (I272M)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 1528541	NM_024649.5(BBS1):c.816C>T (p.Ile272=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1407827	NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys)	BBS1, ZDHHC24 (Y273C)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1075093	NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)	BBS1, ZDHHC24 (R277K)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2679947	NM_024649.5(BBS1):c.830+1G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2701286	NM_024649.5(BBS1):c.830+2T>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 917918	NM_024649.5(BBS1):c.830+2T>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder +1 more	GLikely pathogenic
Select item 389029	NM_024649.5(BBS1):c.830+3A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2893663	NM_024649.5(BBS1):c.830+9A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1660208	NM_024649.5(BBS1):c.830+9A>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2108785	NM_024649.5(BBS1):c.830+10T>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1530868	NM_024649.5(BBS1):c.830+10T>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1578915	NM_024649.5(BBS1):c.830+12del	BBS1, ZDHHC24	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 305462	NM_024649.5(BBS1):c.830+12C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2203160	NM_024649.5(BBS1):c.830+13G>A	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1909358	NM_024649.5(BBS1):c.830+16G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2738535	NM_024649.5(BBS1):c.830+20C>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1678637	NM_024649.5(BBS1):c.830+72A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 869212	NM_024649.5(BBS1):c.830+350_1110+217del	BBS1, ZDHHC24	Deletion (splice acceptor variant +2 more)	Bardet-Biedl syndrome 1	GPathogenic
Select item 1541281	NM_024649.5(BBS1):c.831-20G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015153	NM_024649.5(BBS1):c.831-19T>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2883256	NM_024649.5(BBS1):c.831-18G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2741604	NM_024649.5(BBS1):c.831-18G>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2995910	NM_024649.5(BBS1):c.831-13_831-11del	BBS1, ZDHHC24	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1624616	NM_024649.5(BBS1):c.831-15T>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 96132	NM_024649.5(BBS1):c.831-5C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1138672	NM_024649.5(BBS1):c.831-4A>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

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