ClinVar for Gene (Select 253980) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354065	NM_178863.5(KCTD13):c.64T>G (p.Ser22Ala)	KCTD13, LOC130058798 (S22A)	Single nucleotide variant (missense variant +1 more)	KCTD13-related disorder	GUncertain significance
Select item 3287814	NM_178863.5(KCTD13):c.195G>A (p.Met65Ile)	KCTD13 (M65I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287812	NM_178863.5(KCTD13):c.824C>T (p.Pro275Leu)	ASPHD1, KCTD13 (P275L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287811	NM_178863.5(KCTD13):c.271C>T (p.Arg91Cys)	KCTD13 (R91C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3243485	NC_000016.9:g.(?_29824376)_(30081533_?)del	TAOK2, TLCD3B +13 more	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 3148952	GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1	ALDOA, ASPHD1 +27 more	Copy number loss	See cases	GPathogenic
Select item 3148938	GRCh37/hg19 16p11.2(chr16:29580021-30190029)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 3148921	GRCh37/hg19 16p11.2(chr16:29591327-30190029)x1	ALDOA, ASPHD1 +24 more	Copy number loss	See cases	GPathogenic
Select item 3148854	GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3	ALDOA, ASPHD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 3113609	NM_178863.5(KCTD13):c.591G>C (p.Glu197Asp)	ASPHD1, KCTD13 (E197D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063436	GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063430	GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063416	GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 3057985	NM_178863.5(KCTD13):c.378G>A (p.Val126=)	KCTD13	Single nucleotide variant (synonymous variant +1 more)	KCTD13-related disorder	GLikely benign
Select item 3057318	NM_178863.5(KCTD13):c.681C>T (p.Tyr227=)	ASPHD1, KCTD13	Single nucleotide variant (synonymous variant +1 more)	KCTD13-related disorder	GLikely benign
Select item 3053447	NM_178863.5(KCTD13):c.-4C>T	KCTD13, LOC130058798	Single nucleotide variant (5 prime UTR variant +1 more)	KCTD13-related disorder	GLikely benign
Select item 3024604	GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1	QPRT, SEZ6L2 +25 more	Copy number loss	not provided	GPathogenic
Select item 3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	ALDOA, ASPHD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2685573	GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685572	GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1	ALDOA, ASPHD1 +24 more	Copy number loss	not provided	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685569	GRCh37/hg19 16p11.2(chr16:29383809-29957798)x1	ASPHD1, BOLA2 +14 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2684804	GRCh37/hg19 16p11.2(chr16:29654589-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GPathogenic
Select item 2684803	GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 2672674	GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1	ASPHD1, ALDOA +28 more	Copy number loss	not provided	GPathogenic
Select item 2671579	Single allele	ALDOA, ASPHD1 +25 more	Duplication	not provided	GPathogenic
Select item 2602042	NM_178863.5(KCTD13):c.815C>T (p.Pro272Leu)	ASPHD1, KCTD13 (P272L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590360	NM_178863.5(KCTD13):c.293A>G (p.Asn98Ser)	KCTD13 (N98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582950	GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3	ALDOA, ASPHD1 +25 more	Copy number gain	not provided	GPathogenic
Select item 2580337	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580331	GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580320	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3	ALDOA, ASPHD1 +25 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580312	GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1	ALDOA, ASPHD1 +28 more	Copy number loss	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2570962	GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2506560	GRCh37/hg19 16p11.2(chr16:29495011-30206548)	ALDOA, ASPHD1 +27 more	Copy number loss	Infantile convulsions and choreoathetosis	GPathogenic
Select item 2499634	GRCh38/hg38 16p11.2(chr16:29653297-30181026)	ALDOA, ASPHD1 +90 more	Copy number loss	See cases	GPathogenic
Select item 2464409	NM_178863.5(KCTD13):c.289C>T (p.Leu97Phe)	KCTD13 (L97F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462857	NM_178863.5(KCTD13):c.49G>A (p.Glu17Lys)	KCTD13, LOC130058798 (E17K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462423	NM_178863.5(KCTD13):c.268G>A (p.Gly90Ser)	KCTD13 (G90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455629	NM_178863.5(KCTD13):c.73G>C (p.Glu25Gln)	KCTD13, LOC130058798 (E25Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409861	NM_178863.5(KCTD13):c.205A>C (p.Met69Leu)	KCTD13 (M69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325829	NM_178863.5(KCTD13):c.393G>T (p.Glu131Asp)	KCTD13 (E131D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296378	NM_178863.5(KCTD13):c.386T>G (p.Leu129Arg)	KCTD13 (L129R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292958	NM_178863.5(KCTD13):c.332C>T (p.Thr111Met)	KCTD13 (T111M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264501	NM_178863.5(KCTD13):c.911G>A (p.Arg304His)	ASPHD1, KCTD13 (R304H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232595	NM_178863.5(KCTD13):c.75G>C (p.Glu25Asp)	KCTD13, LOC130058798 (E25D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810304	GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3	MVP, YPEL3 +27 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1810288	GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1	C16orf92, CDIPT +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	Gnot provided
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1808476	GRCh37/hg19 16p11.2(chr16:29567296-30240227)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 1808472	GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1808204	GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1	YPEL3, ZG16 +31 more	Copy number loss	not provided	GPathogenic
Select item 1807842	GRCh37/hg19 16p11.2(chr16:29622758-30240227)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1807828	GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	ALDOA, APOBR +48 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1706497	GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1	HIRIP3, INO80E +27 more	Copy number loss	See cases	GPathogenic
Select item 1704350	GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1	ALDOA, ASPHD1 +24 more	Copy number loss	Dysmorphic features	GUncertain significance
Select item 1703603	GRCh37/hg19 16p11.2(chr16:29591078-30177240)	ALDOA, ASPHD1 +24 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1703600	GRCh37/hg19 16p11.2(chr16:29628661-30306955)	ALDOA, ASPHD1 +28 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1703578	GRCh37/hg19 16p11.2(chr16:29567295-30178406)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703556	GRCh37/hg19 16p11.2(chr16:29580020-30177916)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703545	GRCh37/hg19 16p11.2(chr16:29580020-30177999)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703541	GRCh37/hg19 16p11.2(chr16:29567295-30177916)	MAPK3, MAZ +24 more	Copy number loss	Mayer Rokitansky Kuster Hauser syndrome type 1	GPathogenic
Select item 1703233	Single allele	LOC130058781, MAZ +92 more	Deletion	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1694809	GRCh37/hg19 16p11.2(chr16:29674300-30200008)x1	CDIPT, CORO1A +25 more	Copy number loss	not provided	GPathogenic
Select item 1684831	NM_178863.5(KCTD13):c.790del (p.Thr263_Leu264insTer)	ASPHD1, KCTD13	Deletion (nonsense +1 more)	not specified	GUncertain significance
Select item 1684661	NC_000016.10:g.29640592_30187862del	LOC130058771, LOC130058772 +101 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1684552	GRCh37/hg19 16p11.2(chr16:29601322-30201321)x1	GDPD3, KCTD13 +25 more	Copy number loss	See cases	GPathogenic
Select item 1679413	NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del	LOC130058767, LOC130058768 +119 more	Deletion	See cases	GLikely pathogenic, low penetrance
Select item 1339950	GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1339949	GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1339776	GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	Gnot provided
Select item 1330307	GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3	PPP4C, PRRT2 +25 more	Copy number gain	16p11.2 duplication syndrome	GPathogenic
Select item 1330208	GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3	ALDOA, ASPHD1 +25 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330191	GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3	ALDOA, ASPHD1 +25 more	Copy number gain	16p11.2p12.2 microduplication syndrome	GPathogenic
Select item 1330182	GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330167	GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3	ALDOA, ASPHD1 +31 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330166	GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330158	GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1328112	GRCh37/hg19 16p11.2(chr16:29606372-30199622)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1199403	GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1	YPEL3, MAZ +28 more	Copy number loss	See cases	GPathogenic
Select item 1180509	GRCh37/hg19 16p11.2(chr16:29615859-30199454)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1176677	GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 1176676	GRCh37/hg19 16p11.2(chr16:29675050-30200008)x1	GDPD3, DOC2A +25 more	Copy number loss	not provided	GPathogenic
Select item 1172563	GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1	ALDOA, ASPHD1 +28 more	Copy number loss	See cases	GPathogenic
Select item 1077186	Single allele	GDPD3, ALDOA +28 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1075384	NC_000016.9:g.(?_29802081)_(30200285_?)del	ALDOA, ASPHD1 +21 more	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 1063963	NC_000016.9:g.(?_29802081)_(30199917_?)dup	ALDOA, ASPHD1 +21 more	Duplication	HNSHA due to aldolase A deficiency +2 more	GUncertain significance
Select item 1054446	NC_000016.9:g.(?_29802081)_(30199917_?)del	ALDOA, ASPHD1 +21 more	Deletion	HNSHA due to aldolase A deficiency	GPathogenic
Select item 1025477	NC_000016.9:g.(?_29802081)_(30200285_?)dup	ALDOA, ASPHD1 +21 more	Duplication	Episodic kinesigenic dyskinesia	GUncertain significance
Select item 997089	GRCh37/hg19 16p11.2(chr16:29673954-30198600)	ALDOA, ASPHD1 +25 more	Copy number gain	Autism	GPathogenic
Select item 997070	GRCh37/hg19 16p11.2(chr16:29652999-30198600)	ALDOA, ASPHD1 +25 more	Copy number loss	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 997050	GRCh37/hg19 16p11.2(chr16:29652999-30197341)	HIRIP3, INO80E +25 more	Copy number gain	Severe sensorineural hearing impairment +2 more	GPathogenic
Select item 992652	GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3	MAPK3, SLX1A +31 more	Copy number gain	not provided	GPathogenic

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