KCTD18[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 3287829	NM_152387.4(KCTD18):c.1273G>C (p.Gly425Arg)	KCTD18 (G216R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775804	NM_152387.4(KCTD18):c.1238C>T (p.Ala413Val)	KCTD18 (A204V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2621585	NM_152387.4(KCTD18):c.1234C>G (p.Arg412Gly)	KCTD18 (R203G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113629	NM_152387.4(KCTD18):c.1231G>C (p.Ala411Pro)	KCTD18 (A202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113628	NM_152387.4(KCTD18):c.1211A>G (p.Lys404Arg)	KCTD18 (K195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287827	NM_152387.4(KCTD18):c.1210A>C (p.Lys404Gln)	KCTD18 (K404Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632761	NM_152387.4(KCTD18):c.1208T>G (p.Leu403Arg)	KCTD18 (L194R +1 more)	Single nucleotide variant (missense variant)	KCTD18-related disorder	GUncertain significance
Select item 3052716	NM_152387.4(KCTD18):c.1182C>G (p.Pro394=)	KCTD18	Single nucleotide variant (synonymous variant)	KCTD18-related disorder	GBenign
Select item 3113627	NM_152387.4(KCTD18):c.1172T>C (p.Leu391Pro)	KCTD18 (L182P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059758	NM_152387.4(KCTD18):c.1169G>C (p.Cys390Ser)	KCTD18 (C181S +1 more)	Single nucleotide variant (missense variant)	KCTD18-related disorder	GBenign
Select item 776345	NM_152387.4(KCTD18):c.1159_1166del (p.Thr387fs)	KCTD18 (T178fs +1 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 2387106	NM_152387.4(KCTD18):c.1156G>A (p.Ala386Thr)	KCTD18 (A177T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056358	NM_152387.4(KCTD18):c.1149G>C (p.Pro383=)	KCTD18	Single nucleotide variant (synonymous variant)	KCTD18-related disorder	GBenign
Select item 2524468	NM_152387.4(KCTD18):c.1139A>G (p.Lys380Arg)	KCTD18 (K380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048682	NM_152387.4(KCTD18):c.1101C>T (p.Ser367=)	KCTD18	Single nucleotide variant (synonymous variant)	KCTD18-related disorder	GLikely benign
Select item 3113626	NM_152387.4(KCTD18):c.1085C>G (p.Ala362Gly)	KCTD18 (A153G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035604	NM_152387.4(KCTD18):c.1071G>T (p.Thr357=)	KCTD18	Single nucleotide variant (synonymous variant)	KCTD18-related disorder	GLikely benign
Select item 3113625	NM_152387.4(KCTD18):c.1054G>A (p.Ala352Thr)	KCTD18 (A352T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775805	NM_152387.4(KCTD18):c.1006G>T (p.Gly336Cys)	KCTD18 (G336C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3058937	NM_152387.4(KCTD18):c.998C>T (p.Ala333Val)	KCTD18 (A124V +1 more)	Single nucleotide variant (missense variant)	KCTD18-related disorder	GBenign
Select item 2455859	NM_152387.4(KCTD18):c.955C>T (p.Arg319Cys)	KCTD18 (R110C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651809	NM_152387.4(KCTD18):c.937C>A (p.Arg313=)	KCTD18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043341	NM_152387.4(KCTD18):c.915G>A (p.Thr305=)	KCTD18	Single nucleotide variant (synonymous variant)	KCTD18-related disorder	GLikely benign
Select item 3048850	NM_152387.4(KCTD18):c.889G>T (p.Val297Leu)	KCTD18 (V297L +1 more)	Single nucleotide variant (missense variant)	KCTD18-related disorder	GBenign
Select item 3050872	NM_152387.4(KCTD18):c.885C>T (p.Val295=)	KCTD18	Single nucleotide variant (synonymous variant)	KCTD18-related disorder	GLikely benign
Select item 2472012	NM_152387.4(KCTD18):c.847A>T (p.Thr283Ser)	KCTD18 (T283S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651810	NM_152387.4(KCTD18):c.840C>T (p.Gly280=)	KCTD18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050057	NM_152387.4(KCTD18):c.788C>T (p.Ala263Val)	KCTD18 (A263V +1 more)	Single nucleotide variant (missense variant)	KCTD18-related disorder	GBenign
Select item 2469035	NM_152387.4(KCTD18):c.774A>G (p.Ile258Met)	KCTD18 (I258M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276684	NM_152387.4(KCTD18):c.757C>G (p.Arg253Gly)	KCTD18 (R44G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600165	NM_152387.4(KCTD18):c.739C>T (p.Arg247Cys)	KCTD18 (R247C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369426	NM_152387.4(KCTD18):c.718C>T (p.Arg240Trp)	KCTD18 (R240W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033135	NM_152387.4(KCTD18):c.647C>G (p.Ala216Gly)	KCTD18 (A216G +1 more)	Single nucleotide variant (missense variant)	KCTD18-related disorder	GLikely benign
Select item 3287828	NM_152387.4(KCTD18):c.645T>A (p.Asp215Glu)	KCTD18 (D215E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606942	NM_152387.4(KCTD18):c.598A>T (p.Ser200Cys)	KCTD18 (S200C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260030	NM_152387.4(KCTD18):c.582T>A (p.Asn194Lys)	KCTD18 (N194K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287826	NM_152387.4(KCTD18):c.368A>G (p.Lys123Arg)	KCTD18 (K123R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052702	NM_152387.4(KCTD18):c.315C>T (p.Asp105=)	KCTD18	Single nucleotide variant (synonymous variant +1 more)	KCTD18-related disorder	GBenign
Select item 2263201	NM_152387.4(KCTD18):c.244G>A (p.Glu82Lys)	KCTD18 (E82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364922	NM_152387.4(KCTD18):c.239C>T (p.Thr80Ile)	KCTD18 (T80I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287825	NM_152387.4(KCTD18):c.179G>A (p.Arg60His)	KCTD18 (R60H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545409	NM_152387.4(KCTD18):c.91T>G (p.Cys31Gly)	KCTD18 (C31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560209	NM_152387.4(KCTD18):c.44G>A (p.Arg15Gln)	KCTD18 (R15Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038558	NM_152387.4(KCTD18):c.25G>A (p.Glu9Lys)	KCTD18 (E9K)	Single nucleotide variant (missense variant +1 more)	KCTD18-related disorder	GBenign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	PGAP1, PLCL1 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 78