ClinVar for Gene (Select 79683) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334234	NM_024630.3(ZDHHC14):c.1009C>G (p.Pro337Ala)	ZDHHC14 (P337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334233	NM_024630.3(ZDHHC14):c.455C>G (p.Thr152Ser)	ZDHHC14 (T152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334231	NM_024630.3(ZDHHC14):c.1267C>T (p.Leu423Phe)	ZDHHC14 (L408F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192669	NM_024630.3(ZDHHC14):c.908G>C (p.Ser303Thr)	ZDHHC14 (S303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192668	NM_024630.3(ZDHHC14):c.776T>G (p.Phe259Cys)	ZDHHC14 (F259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192667	NM_024630.3(ZDHHC14):c.715A>G (p.Thr239Ala)	ZDHHC14 (T239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192666	NM_024630.3(ZDHHC14):c.440G>A (p.Arg147His)	ZDHHC14 (R147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192665	NM_024630.3(ZDHHC14):c.1042G>A (p.Gly348Arg)	ZDHHC14 (G348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2531001	NM_024630.3(ZDHHC14):c.1105G>A (p.Val369Ile)	ZDHHC14 (V369I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489677	NM_024630.3(ZDHHC14):c.973G>A (p.Asp325Asn)	ZDHHC14 (D325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488615	NM_024630.3(ZDHHC14):c.754G>A (p.Val252Ile)	ZDHHC14 (V252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474504	NM_024630.3(ZDHHC14):c.292G>T (p.Ala98Ser)	ZDHHC14 (A98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461985	NM_024630.3(ZDHHC14):c.1177G>A (p.Gly393Arg)	ZDHHC14 (G378R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398035	NM_024630.3(ZDHHC14):c.1049C>T (p.Thr350Met)	ZDHHC14 (T350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381918	NM_024630.3(ZDHHC14):c.238G>A (p.Ala80Thr)	ZDHHC14 (A80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366208	NM_024630.3(ZDHHC14):c.1378A>G (p.Ser460Gly)	ZDHHC14 (S445G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363408	NM_024630.3(ZDHHC14):c.1019C>T (p.Pro340Leu)	ZDHHC14 (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313481	NM_024630.3(ZDHHC14):c.1213A>G (p.Thr405Ala)	ZDHHC14 (T390A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293419	NM_024630.3(ZDHHC14):c.1183C>A (p.Pro395Thr)	ZDHHC14 (P380T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290781	NM_024630.3(ZDHHC14):c.89A>G (p.Lys30Arg)	LOC129997545, ZDHHC14 (K30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290206	NM_024630.3(ZDHHC14):c.1286G>A (p.Arg429Gln)	ZDHHC14 (R414Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289887	NM_024630.3(ZDHHC14):c.1232C>T (p.Pro411Leu)	ZDHHC14 (P396L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265046	NM_024630.3(ZDHHC14):c.463G>A (p.Val155Ile)	ZDHHC14 (V155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239048	NM_024630.3(ZDHHC14):c.1159G>A (p.Asp387Asn)	ZDHHC14 (D372N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1527316	GRCh37/hg19 6q25.3(chr6:157473931-157870049)	ARID1B, TMEM242 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527314	GRCh37/hg19 6q25.3(chr6:157261376-157964661)	ARID1B, TMEM242 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527312	GRCh37/hg19 6q25.3(chr6:156654463-157964661)	ARID1B, TMEM242 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1047882	GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)	ARID1B, CLDN20 +6 more	Copy number loss	Corpus callosum, agenesis of +3 more	GPathogenic
Select item 979581	GRCh37/hg19 6q25.3(chr6:157715222-157964661)x3	TMEM242, ZDHHC14	Copy number gain	not provided	GUncertain significance
Select item 814886	GRCh37/hg19 6q25.3(chr6:156654463-157964661)x3	ZDHHC14, ARID1B +1 more	Copy number gain	not provided	GUncertain significance
Select item 788356	NM_024630.3(ZDHHC14):c.1255G>A (p.Ala419Thr)	ZDHHC14 (A419T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 685045	GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3	TIAM2, TMEM242 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625549	GRCh37/hg19 6q25.3(chr6:156858484-157854806)	ARID1B, TMEM242 +1 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 563244	GRCh37/hg19 6q25.3(chr6:157431679-157978958)x3	ZDHHC14, TMEM242 +1 more	Copy number gain	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Cryptorchidism +7 more	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 395698	GRCh37/hg19 6q25.3(chr6:157944961-158102371)x1	ZDHHC14	Copy number loss	See cases	GLikely benign
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 242863	Single allele	TMEM242, ZDHHC14 +2 more	Deletion	Long eyelashes +5 more	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154650	GRCh38/hg38 6q25.3(chr6:156353632-157547741)x3	ARID1B, LOC105378073 +58 more	Copy number gain	See cases	GLikely benign
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 152403	GRCh38/hg38 6q25.3(chr6:157209928-157433541)x3	ARID1B, LOC123881346 +10 more	Copy number gain	See cases	GLikely benign
Select item 151613	GRCh38/hg38 6q25.3(chr6:157489414-157547682)x3	LOC129389702, MIR3692 +1 more	Copy number gain	See cases	GLikely benign
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 148811	GRCh38/hg38 6q25.3(chr6:157523929-157547741)x1	MIR3692, ZDHHC14	Copy number loss	See cases	GUncertain significance
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 147313	GRCh38/hg38 6q25.3(chr6:156353632-157449782)x1	ARID1B, LOC105378073 +55 more	Copy number loss	See cases	GPathogenic
Select item 146050	GRCh38/hg38 6q25.3(chr6:156353632-157547682)x1	ARID1B, LOC105378073 +58 more	Copy number loss	See cases	GUncertain significance
Select item 145893	GRCh38/hg38 6q25.3(chr6:157523929-157547682)x3	MIR3692, ZDHHC14	Copy number gain	See cases	GLikely benign
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66