ClinVar for Gene (Select 11116) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266218	NM_007045.4(CEP43):c.969A>C (p.Lys323Asn)	CEP43 (K276N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266217	NM_007045.4(CEP43):c.1075A>C (p.Ile359Leu)	CEP43 (I359L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266216	NM_007045.4(CEP43):c.1073A>C (p.Glu358Ala)	CEP43 (E358A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266215	NM_007045.4(CEP43):c.611C>G (p.Thr204Arg)	CEP43 (T157R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266214	NM_007045.4(CEP43):c.81C>A (p.Ser27Arg)	CEP43, LOC129997681 (S27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266213	NM_007045.4(CEP43):c.22G>A (p.Val8Met)	CEP43, LOC129997681 (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246169	NC_000006.11:g.(?_166778917)_(167453466_?)dup	CEP43, MPC1 +2 more	Duplication	not provided	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 3142952	NM_007045.4(CEP43):c.949C>G (p.Leu317Val)	CEP43 (L297V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142951	NM_007045.4(CEP43):c.863C>A (p.Pro288His)	CEP43 (P241H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142948	NM_007045.4(CEP43):c.85G>T (p.Val29Phe)	CEP43, LOC129997681 (V29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142947	NM_007045.4(CEP43):c.851C>T (p.Ser284Leu)	CEP43 (S237L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142946	NM_007045.4(CEP43):c.793A>G (p.Lys265Glu)	CEP43 (K218E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142945	NM_007045.4(CEP43):c.634A>C (p.Lys212Gln)	CEP43 (K192Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142944	NM_007045.4(CEP43):c.624G>C (p.Leu208Phe)	CEP43 (L161F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142943	NM_007045.4(CEP43):c.546G>C (p.Lys182Asn)	CEP43 (K182N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142942	NM_007045.4(CEP43):c.542G>A (p.Gly181Asp)	CEP43 (G181D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142941	NM_007045.4(CEP43):c.505A>G (p.Thr169Ala)	CEP43 (T169A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142940	NM_007045.4(CEP43):c.49C>T (p.Arg17Trp)	CEP43, LOC129997681 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142939	NM_007045.4(CEP43):c.436G>A (p.Glu146Lys)	CEP43 (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142938	NM_007045.4(CEP43):c.400C>T (p.Arg134Cys)	CEP43 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142937	NM_007045.4(CEP43):c.33G>T (p.Glu11Asp)	CEP43, LOC129997681 (E11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142936	NM_007045.4(CEP43):c.335G>A (p.Arg112Gln)	CEP43 (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142935	NM_007045.4(CEP43):c.324G>T (p.Glu108Asp)	CEP43 (E108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142934	NM_007045.4(CEP43):c.313G>A (p.Glu105Lys)	CEP43 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142933	NM_007045.4(CEP43):c.268A>T (p.Thr90Ser)	CEP43 (T90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142932	NM_007045.4(CEP43):c.267T>G (p.Phe89Leu)	CEP43 (F89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142931	NM_007045.4(CEP43):c.207A>C (p.Lys69Asn)	CEP43 (K69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142930	NM_007045.4(CEP43):c.188A>G (p.Lys63Arg)	CEP43 (K63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142929	NM_007045.4(CEP43):c.17C>T (p.Ala6Val)	CEP43, LOC129997681 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142928	NM_007045.4(CEP43):c.152T>G (p.Val51Gly)	CEP43 (V51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142927	NM_007045.4(CEP43):c.1191T>G (p.Asp397Glu)	CEP43 (D397E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142926	NM_007045.4(CEP43):c.1020T>A (p.Asp340Glu)	CEP43 (D340E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062885	GRCh37/hg19 6q27(chr6:167165318-167433823)x1	CEP43, RNASET2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684463	GRCh37/hg19 6q27(chr6:167047570-167576975)x3	CCR6, CEP43 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2604491	NM_007045.4(CEP43):c.745G>A (p.Asp249Asn)	CEP43 (D202N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588003	NM_007045.4(CEP43):c.163A>T (p.Thr55Ser)	CEP43 (T55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2541721	NM_007045.4(CEP43):c.704T>C (p.Leu235Ser)	CEP43 (L235S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528251	NM_007045.4(CEP43):c.979C>G (p.Leu327Val)	CEP43 (L280V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491610	NM_007045.4(CEP43):c.881G>T (p.Ser294Ile)	CEP43 (S274I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424749	NC_000006.11:g.(?_167343076)_(167453466_?)del	CEP43, RNASET2	Deletion	not provided	GPathogenic
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340871	GRCh37/hg19 6q27(chr6:167263995-167774832)x3	CCR6, CEP43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 786767	NM_007045.4(CEP43):c.829G>C (p.Ala277Pro)	CEP43 (A277P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563258	GRCh37/hg19 6q27(chr6:167388817-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 563257	GRCh37/hg19 6q27(chr6:167167381-167433823)x1	CEP43, RPS6KA2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
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 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 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394614	GRCh37/hg19 6q27(chr6:167194654-167416922)x1	CEP43, RNASET2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 221459	GRCh37/hg19 6q27(chr6:167412952-167447412)x3	CEP43	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
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 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 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 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 59550	GRCh38/hg38 6q27(chr6:166907168-167368489)x3	CCR6, CEP43 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
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: 95