56984[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 147418	GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	AFG3L2, ANKRD62 +137 more	Copy number gain	See cases	GPathogenic
Select item 144318	GRCh38/hg38 18p11.21(chr18:12159446-12739785)	AFG3L2, ANKRD62 +23 more	Copy number gain	See cases	GPathogenic
Select item 599568	NM_024899.4(CEP76):c.1874G>A (p.Arg625His)	CEP76, PSMG2 (R625H +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 2366866	NM_024899.4(CEP76):c.1727A>G (p.Asn576Ser)	CEP76, PSMG2 (N501S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266262	NM_024899.4(CEP76):c.1706C>T (p.Thr569Ile)	CEP76, PSMG2 (T494I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266267	NM_024899.4(CEP76):c.1656G>T (p.Gln552His)	CEP76, PSMG2 (Q477H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2616276	NM_024899.4(CEP76):c.1595T>G (p.Leu532Arg)	CEP76, PSMG2 (L532R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305379	NM_024899.4(CEP76):c.1483G>A (p.Ala495Thr)	CEP76, PSMG2 (A495T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143041	NM_024899.4(CEP76):c.1406G>A (p.Cys469Tyr)	CEP76, PSMG2 (C469Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471043	NM_024899.4(CEP76):c.1328T>A (p.Val443Asp)	CEP76, PSMG2 (V368D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266264	NM_024899.4(CEP76):c.1234A>G (p.Met412Val)	CEP76, PSMG2 (M412V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266265	NM_024899.4(CEP76):c.1157G>C (p.Ser386Thr)	CEP76, PSMG2 (S386T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600430	NM_024899.4(CEP76):c.1094C>T (p.Thr365Ile)	CEP76, PSMG2 (T290I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143040	NM_024899.4(CEP76):c.1031A>G (p.Asn344Ser)	CEP76, PSMG2 (N344S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 599570	NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)	CEP76, PSMG2 (A329T +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 3052591	NM_024899.4(CEP76):c.948A>T (p.Ile316=)	CEP76, PSMG2	Single nucleotide variant (synonymous variant +2 more)	CEP76-related disorder	GLikely benign
Select item 3040766	NM_024899.4(CEP76):c.934-10T>C	CEP76, PSMG2	Single nucleotide variant (intron variant)	CEP76-related disorder	GLikely benign
Select item 3143046	NM_024899.4(CEP76):c.893G>A (p.Arg298Gln)	CEP76, PSMG2 (R223Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230938	NM_024899.4(CEP76):c.842G>A (p.Arg281Gln)	CEP76, PSMG2 (R281Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553971	NM_024899.4(CEP76):c.830C>T (p.Ala277Val)	CEP76, PSMG2 (A202V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337082	NM_024899.4(CEP76):c.756G>A (p.Met252Ile)	CEP76, PSMG2 (M177I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143045	NM_024899.4(CEP76):c.679A>C (p.Ser227Arg)	CEP76, PSMG2 (S152R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048600	NM_024899.4(CEP76):c.630A>C (p.Ser210=)	CEP76, PSMG2	Single nucleotide variant (synonymous variant +2 more)	CEP76-related disorder	GBenign
Select item 3050295	NM_024899.4(CEP76):c.607G>C (p.Gly203Arg)	CEP76, PSMG2 (G128R +1 more)	Single nucleotide variant (missense variant +2 more)	CEP76-related disorder	GBenign
Select item 3266263	NM_024899.4(CEP76):c.553A>G (p.Met185Val)	CEP76, PSMG2 (M110V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268616	NM_024899.4(CEP76):c.542A>G (p.Asp181Gly)	CEP76, PSMG2 (D106G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568185	NM_024899.4(CEP76):c.530C>A (p.Thr177Asn)	CEP76, PSMG2 (T177N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3060773	NM_024899.4(CEP76):c.515G>A (p.Ser172Asn)	CEP76, PSMG2 (S172N)	Single nucleotide variant (missense variant +2 more)	CEP76-related disorder	GBenign
Select item 3143043	NM_024899.4(CEP76):c.443G>A (p.Arg148His)	CEP76, PSMG2 (R148H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456589	NM_024899.4(CEP76):c.398G>A (p.Cys133Tyr)	CEP76, PSMG2 (C133Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223232	NM_024899.4(CEP76):c.398G>T (p.Cys133Phe)	CEP76, PSMG2 (C133F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266266	NM_024899.4(CEP76):c.305A>G (p.Asp102Gly)	CEP76, PSMG2 (D102G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143042	NM_024899.4(CEP76):c.272A>T (p.Asp91Val)	CEP76, PSMG2 (D91V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242656	NM_024899.4(CEP76):c.262A>G (p.Ile88Val)	CEP76, PSMG2 (I88V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2249820	NM_024899.4(CEP76):c.232C>G (p.Gln78Glu)	CEP76, PSMG2 (Q78E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556718	NM_024899.4(CEP76):c.181A>G (p.Ile61Val)	CEP76, PSMG2 (I61V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391014	NM_024899.4(CEP76):c.109C>T (p.Arg37Trp)	CEP76, PSMG2 (R37W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 599569	NM_024899.4(CEP76):c.108A>G (p.Ile36Met)	CEP76, PSMG2 (I36M)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 2369242	NM_024899.4(CEP76):c.71T>C (p.Val24Ala)	CEP76, PSMG2 (V24A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350700	NM_024899.4(CEP76):c.23C>T (p.Ala8Val)	CEP76, PSMG2 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493167	NM_024899.4(CEP76):c.11C>T (p.Pro4Leu)	CEP76, PSMG2 (P4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2688102	NM_020232.5(PSMG2):c.-40A>G	PSMG2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 2978492	NM_020232.5(PSMG2):c.1A>G (p.Met1Val)	PSMG2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1954570	NM_020232.5(PSMG2):c.15C>A (p.Cys5Ter)	PSMG2 (C5*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1970419	NM_020232.5(PSMG2):c.16G>C (p.Gly6Arg)	PSMG2 (G6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2118453	NM_020232.5(PSMG2):c.21G>C (p.Glu7Asp)	PSMG2 (E7D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2110038	NM_020232.5(PSMG2):c.30C>A (p.Pro10=)	PSMG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1021747	NM_020232.5(PSMG2):c.34C>T (p.Leu12Phe)	PSMG2 (L12F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2797263	NM_020232.5(PSMG2):c.38C>G (p.Ala13Gly)	PSMG2 (A13G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166406	NM_020232.5(PSMG2):c.40G>A (p.Gly14Ser)	PSMG2 (G14S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1649323	NM_020232.5(PSMG2):c.42C>T (p.Gly14=)	PSMG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917338	NM_020232.5(PSMG2):c.47C>T (p.Thr16Ile)	PSMG2 (T16I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1655746	NM_020232.5(PSMG2):c.48C>G (p.Thr16=)	PSMG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559631	NM_020232.5(PSMG2):c.48C>T (p.Thr16=)	PSMG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1551867	NM_020232.5(PSMG2):c.57+7C>T	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570746	NM_020232.5(PSMG2):c.57+15G>A	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009534	NM_020232.5(PSMG2):c.57+18C>G	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688103	NM_020232.5(PSMG2):c.57+29C>T	PSMG2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2003269	NM_020232.5(PSMG2):c.58-15C>T	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665024	NM_020232.5(PSMG2):c.58-12_58-11del	PSMG2	Deletion (intron variant)	not provided	GLikely benign
Select item 3020876	NM_020232.5(PSMG2):c.66A>G (p.Val22=)	PSMG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2287407	NM_020232.5(PSMG2):c.80T>C (p.Val27Ala)	PSMG2 (V27A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1974926	NM_020232.5(PSMG2):c.83G>A (p.Gly28Asp)	PSMG2 (G28D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896762	NM_020232.5(PSMG2):c.91G>T (p.Ala31Ser)	PSMG2 (A31S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940235	NM_020232.5(PSMG2):c.95T>C (p.Met32Thr)	PSMG2 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067542	NM_020232.5(PSMG2):c.100_101del (p.Leu34fs)	PSMG2 (L34fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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