ClinVar for Gene (Select 8558) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243280	NC_000016.9:g.(?_89730828)_(89877489_?)del	CDK10, FANCA +4 more	Deletion	Fanconi anemia	GPathogenic
Select item 3243247	NC_000016.9:g.(?_89730828)_(89858975_?)del	CDK10, FANCA +4 more	Deletion	Fanconi anemia	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3235695	NM_052988.5(CDK10):c.669G>A (p.Trp223Ter)	CDK10 (W152* +1 more)	Single nucleotide variant (nonsense +1 more)	Al Kaissi syndrome	GLikely pathogenic
Select item 3141447	NM_052988.5(CDK10):c.935C>T (p.Ala312Val)	CDK10 (A235V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141446	NM_052988.5(CDK10):c.833G>A (p.Arg278Gln)	CDK10 (R207Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141445	NM_052988.5(CDK10):c.658A>G (p.Ile220Val)	CDK10 (I220V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141444	NM_052988.5(CDK10):c.635G>A (p.Gly212Glu)	CDK10 (G212E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141442	NM_052988.5(CDK10):c.170G>A (p.Arg57Gln)	CDK10 (R57Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3068793	NM_052988.5(CDK10):c.691G>A (p.Glu231Lys)	CDK10 (E160K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063398	GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3	ANKRD11, CDK10 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3057753	NM_052988.5(CDK10):c.417+5G>A	CDK10	Single nucleotide variant (intron variant)	CDK10-related disorder	GLikely benign
Select item 3053513	NM_052988.5(CDK10):c.546C>T (p.Phe182=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	CDK10-related disorder	GLikely benign
Select item 3052864	NM_052988.5(CDK10):c.485+7G>C	CDK10	Single nucleotide variant (intron variant)	CDK10-related disorder	GLikely benign
Select item 3047304	NM_052988.5(CDK10):c.1082G>A (p.Ter361=)	CDK10	Single nucleotide variant (synonymous variant +2 more)	CDK10-related disorder	GLikely benign
Select item 3047147	NM_052988.5(CDK10):c.474C>T (p.Phe158=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	CDK10-related disorder	GLikely benign
Select item 3044874	NM_052988.5(CDK10):c.609-7T>G	CDK10	Single nucleotide variant (intron variant)	CDK10-related disorder	GLikely benign
Select item 3044071	NM_052988.5(CDK10):c.*82G>A	CDK10	Single nucleotide variant (3 prime UTR variant +2 more)	CDK10-related disorder	GLikely benign
Select item 3039895	NM_052988.5(CDK10):c.792+7G>A	CDK10	Single nucleotide variant (intron variant)	CDK10-related disorder	GLikely benign
Select item 3033161	NM_052988.5(CDK10):c.*90G>A	CDK10	Single nucleotide variant (3 prime UTR variant +1 more)	CDK10-related disorder	GLikely benign
Select item 3026564	NM_052988.5(CDK10):c.717C>A (p.Leu239=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684824	GRCh37/hg19 16q24.3(chr16:89563707-89772750)x3	CDK10, CHMP1A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2647131	NM_052988.5(CDK10):c.1043C>A (p.Pro348Gln)	CDK10 (P271Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2647130	NM_052988.5(CDK10):c.942C>T (p.Ala314=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2647129	NM_052988.5(CDK10):c.936G>A (p.Ala312=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647128	NM_052988.5(CDK10):c.608+10_608+12del	CDK10	Deletion (intron variant)	not provided	GLikely benign
Select item 2647127	NM_052988.5(CDK10):c.570C>T (p.Val190=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647126	NM_052988.5(CDK10):c.429C>T (p.Ile143=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617347	NM_052988.5(CDK10):c.295G>A (p.Val99Met)	CDK10 (V99M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580191	NM_052988.5(CDK10):c.503del (p.Asn168fs)	CDK10 (N168fs +1 more)	Deletion (frameshift variant +1 more)	Al Kaissi syndrome	GPathogenic
Select item 2580190	NM_052988.5(CDK10):c.461T>C (p.Leu154Pro)	CDK10 (L154P +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GPathogenic
Select item 2580189	NM_052988.5(CDK10):c.452T>C (p.Leu151Pro)	CDK10 (L151P +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GPathogenic
Select item 2580188	NM_052988.5(CDK10):c.226A>T (p.Lys76Ter)	CDK10 (K5* +1 more)	Single nucleotide variant (nonsense +1 more)	Al Kaissi syndrome	GPathogenic
Select item 2580187	NM_052988.5(CDK10):c.161-1G>C	CDK10	Single nucleotide variant (splice acceptor variant)	Al Kaissi syndrome	GPathogenic
Select item 2580186	NM_052988.4:c.(87+1_88-1)_(232+1_233-1)del	CDK10	Deletion	Al Kaissi syndrome	GPathogenic
Select item 2580185	NM_052988.5(CDK10):c.87+5G>A	CDK10, LINC02166	Single nucleotide variant (non-coding transcript variant +1 more)	Al Kaissi syndrome	GPathogenic
Select item 2580184	NM_052988.5(CDK10):c.25G>C (p.Glu9Gln)	CDK10, LINC02166 (E9Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2580183	NM_052988.5(CDK10):c.792G>A (p.Pro264=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	Al Kaissi syndrome	GPathogenic
Select item 2580182	NM_052988.5(CDK10):c.625CTG[1] (p.Leu211del)	CDK10 (L140del +1 more)	Microsatellite (inframe_deletion +1 more)	Al Kaissi syndrome	GPathogenic
Select item 2570959	NM_052988.5(CDK10):c.645G>A (p.Thr215=)	CDK10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2570958	NM_052988.5(CDK10):c.12A>T (p.Pro4=)	CDK10, LINC02166	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2570957	NM_052988.5(CDK10):c.10C>G (p.Pro4Ala)	CDK10, LINC02166 (P4A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2532419	NM_052988.5(CDK10):c.1078C>A (p.Pro360Thr)	CDK10 (P289T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522944	NM_052988.5(CDK10):c.805C>G (p.Leu269Val)	CDK10 (L198V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517658	NM_052988.5(CDK10):c.546C>G (p.Phe182Leu)	CDK10 (F111L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479575	NM_052988.5(CDK10):c.313G>A (p.Val105Ile)	CDK10 (V105I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2467589	NM_052988.5(CDK10):c.938C>T (p.Thr313Met)	CDK10 (T236M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463786	NM_052988.5(CDK10):c.556C>T (p.Arg186Trp)	CDK10 (R115W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457054	NM_052988.5(CDK10):c.1034G>A (p.Arg345Gln)	CDK10 (R268Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2439867	NM_052988.5(CDK10):c.638C>T (p.Thr213Ile)	CDK10 (T142I +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GUncertain significance
Select item 2439866	NM_052988.5(CDK10):c.886G>A (p.Gly296Arg)	CDK10 (G225R +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GUncertain significance
Select item 2425847	NC_000016.9:g.(?_89167090)_(89883023_?)dup	ACSF3, ANKRD11 +15 more	Duplication	KBG syndrome	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	SPIRE2, TCF25 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422422	NC_000016.9:g.(?_89556653)_(89851392_?)dup	ANKRD11, CDK10 +10 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422419	NC_000016.9:g.(?_89712474)_(89866066_?)del	CDK10, CHMP1A +5 more	Deletion	Fanconi anemia	GPathogenic
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	DPEP1, DEF8 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2410085	NM_052988.5(CDK10):c.882G>T (p.Glu294Asp)	CDK10 (E223D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402344	NM_052988.5(CDK10):c.101G>A (p.Arg34Gln)	CDK10 (R34Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400053	NM_052988.5(CDK10):c.1049C>T (p.Thr350Ile)	CDK10 (T273I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2379327	NM_052988.5(CDK10):c.583A>G (p.Met195Val)	CDK10 (M124V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370312	NM_052988.5(CDK10):c.1069C>T (p.Arg357Cys)	CDK10 (R286C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355626	NM_052988.5(CDK10):c.407C>T (p.Ser136Leu)	CDK10 (S65L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321981	NM_052988.5(CDK10):c.442C>T (p.Leu148Phe)	CDK10 (L77F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315096	NM_052988.5(CDK10):c.944G>A (p.Gly315Glu)	CDK10 (G238E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309983	NM_052988.5(CDK10):c.1042C>T (p.Pro348Ser)	CDK10 (P271S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2293026	NM_052988.5(CDK10):c.37C>A (p.Leu13Met)	CDK10, LINC02166 (L13M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2273803	NM_052988.5(CDK10):c.707G>A (p.Arg236Lys)	CDK10 (R165K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2271184	NM_052988.5(CDK10):c.98G>A (p.Cys33Tyr)	CDK10 (C33Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252083	NM_052988.5(CDK10):c.208G>A (p.Val70Met)	CDK10 (V70M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245490	NM_052988.5(CDK10):c.514A>G (p.Thr172Ala)	CDK10 (T172A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245381	NM_052988.5(CDK10):c.41A>G (p.Lys14Arg)	CDK10, LINC02166 (K14R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230525	NM_052988.5(CDK10):c.86G>A (p.Arg29Lys)	CDK10, LINC02166 (R29K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1807941	GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 1802200	NM_052988.5(CDK10):c.716_728del (p.Leu239fs)	CDK10 (L168fs +1 more)	Deletion (frameshift variant +1 more)	Al Kaissi syndrome	GPathogenic
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706570	NM_052988.5(CDK10):c.872G>A (p.Trp291Ter)	CDK10 (W220* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay	GPathogenic
Select item 1694808	NM_052988.5(CDK10):c.1073G>A (p.Cys358Tyr)	CDK10 (C281Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1684275	NM_052988.5(CDK10):c.299_300dup (p.Leu101fs)	CDK10 (L101fs +1 more)	Duplication (frameshift variant +1 more)	Al Kaissi syndrome	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526545	GRCh37/hg19 16q24.3(chr16:88985997-89962916)	ACSF3, ANKRD11 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1340715	GRCh37/hg19 16q24.3(chr16:89748800-89903843)x1	CDK10, FANCA +4 more	Copy number loss	not provided	GLikely benign
Select item 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 1305039	NM_052988.5(CDK10):c.614G>A (p.Arg205Gln)	CDK10 (R134Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1192717	NM_052988.5(CDK10):c.609-29T>C	CDK10	Single nucleotide variant (intron variant)	Al Kaissi syndrome	GBenign
Select item 1192716	NM_052988.5(CDK10):c.485+49A>G	CDK10	Single nucleotide variant (intron variant)	Al Kaissi syndrome	GBenign
Select item 1180852	NM_052988.5(CDK10):c.202A>T (p.Lys68Ter)	CDK10 (K68*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1179109	GRCh37/hg19 16q24.3(chr16:89620873-89881041)	CDK10, CHMP1A +9 more	Copy number loss	Fanconi anemia complementation group A	GPathogenic
Select item 1176671	NM_052988.5(CDK10):c.685C>G (p.Leu229Val)	CDK10 (L158V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1176670	NM_052988.5(CDK10):c.520_521del (p.Lys174fs)	CDK10 (K103fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1172607	NM_052988.5(CDK10):c.870_871del (p.Trp291fs)	CDK10 (W220fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1033748	NM_052988.5(CDK10):c.295G>C (p.Val99Leu)	CDK10 (V28L +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GUncertain significance
Select item 1033747	NM_052988.5(CDK10):c.684A>G (p.Ile228Met)	CDK10 (I228M +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GUncertain significance
Select item 1030107	NM_052988.5(CDK10):c.169C>T (p.Arg57Trp)	CDK10 (R57W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1027758	NM_052988.5(CDK10):c.1065C>A (p.Ser355Arg)	CDK10 (S278R +2 more)	Single nucleotide variant (missense variant +2 more)	Al Kaissi syndrome	GUncertain significance
Select item 1027757	NM_052988.5(CDK10):c.263C>G (p.Thr88Arg)	CDK10 (T88R +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GUncertain significance
Select item 1027756	NM_052988.5(CDK10):c.661G>A (p.Asp221Asn)	CDK10 (D150N +1 more)	Single nucleotide variant (missense variant +1 more)	Al Kaissi syndrome	GUncertain significance
Select item 1027755	NM_052988.5(CDK10):c.527G>C (p.Cys176Ser)	CDK10 (C105S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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