23347[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 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 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 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	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 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
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 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 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 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
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 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	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 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 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 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 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 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	See cases	GPathogenic
Select item 152369	GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1	EMILIN2, ADCYAP1 +63 more	Copy number loss	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 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	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 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	ADCYAP1, AKAIN1 +131 more	Copy number gain	See cases	GPathogenic
Select item 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	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 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	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 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59917	GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1	LOC130062117, LOC130062118 +109 more	Copy number loss	See cases	GPathogenic
Select item 151494	GRCh38/hg38 18p11.32(chr18:2549225-2700108)x3	LOC125338464, LOC126862679 +9 more	Copy number gain	See cases	GLikely benign
Select item 1272270	NC_000018.10:g.2655552G>A	SMCHD1	Single nucleotide variant	not provided	GBenign
Select item 1222021	NC_000018.10:g.2655612C>T	LOC130062083, SMCHD1	Single nucleotide variant	not provided	GBenign
Select item 1291846	NC_000018.10:g.2655706A>G	LOC130062083, SMCHD1	Single nucleotide variant	not provided	GBenign
Select item 584363	NC_000018.9:g.(?_2656055)_(2656280_?)dup	LOC130062084, SMCHD1	Duplication	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 499599	NM_015295.3(SMCHD1):c.2T>G (p.Met1Arg)	SMCHD1 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962406	NM_015295.3(SMCHD1):c.11C>T (p.Ala4Val)	SMCHD1 (A4V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2157528	NM_015295.3(SMCHD1):c.15C>T (p.Asp5=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 464163	NM_015295.3(SMCHD1):c.15C>A (p.Asp5Glu)	SMCHD1 (D5E)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2859418	NM_015295.3(SMCHD1):c.17G>T (p.Gly6Val)	SMCHD1 (G6V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1008120	NM_015295.3(SMCHD1):c.19G>A (p.Gly7Ser)	SMCHD1 (G7S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2967894	NM_015295.3(SMCHD1):c.24G>T (p.Gly8=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2825093	NM_015295.3(SMCHD1):c.27T>C (p.Pro9=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2433595	NM_015295.3(SMCHD1):c.35_45dup (p.Thr16fs)	SMCHD1 (T16fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1476309	NM_015295.3(SMCHD1):c.29G>T (p.Gly10Val)	SMCHD1 (G10V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1717380	NM_015295.3(SMCHD1):c.34G>A (p.Ala12Thr)	SMCHD1 (A12T)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1363182	NM_015295.3(SMCHD1):c.35C>A (p.Ala12Asp)	SMCHD1 (A12D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 500900	NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala)	SMCHD1 (S13A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +3 more	GUncertain significance
Select item 2172653	NM_015295.3(SMCHD1):c.38C>T (p.Ser13Phe)	SMCHD1 (S13F)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 286236	NM_015295.3(SMCHD1):c.40G>A (p.Val14Met)	SMCHD1 (V14M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1991580	NM_015295.3(SMCHD1):c.43G>T (p.Gly15Trp)	SMCHD1 (G15W)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1092058	NM_015295.3(SMCHD1):c.45G>A (p.Gly15=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2481908	NM_015295.3(SMCHD1):c.47C>G (p.Thr16Ser)	SMCHD1 (T16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436147	NM_015295.3(SMCHD1):c.47C>T (p.Thr16Ile)	SMCHD1 (T16I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413238	NM_015295.3(SMCHD1):c.51GGA[1] (p.Glu18del)	SMCHD1 (E18del)	Microsatellite (inframe_deletion)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 499632	NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp)	SMCHD1 (E18D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GLikely benign
Select item 283671	NM_015295.3(SMCHD1):c.55G>C (p.Asp19His)	SMCHD1 (D19H)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 288490	NM_015295.3(SMCHD1):c.63A>G (p.Gly21=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2854268	NM_015295.3(SMCHD1):c.71G>A (p.Gly24Asp)	SMCHD1 (G24D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2859837	NM_015295.3(SMCHD1):c.74A>G (p.His25Arg)	SMCHD1 (H25R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1405884	NM_015295.3(SMCHD1):c.76A>T (p.Arg26Trp)	SMCHD1 (R26W)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1004868	NM_015295.3(SMCHD1):c.79A>G (p.Thr27Ala)	SMCHD1 (T27A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2436190	NM_015295.3(SMCHD1):c.80C>T (p.Thr27Met)	SMCHD1 (T27M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 955145	NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)	SMCHD1 (Y29*)	Single nucleotide variant (nonsense)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 689562	NM_015295.3(SMCHD1):c.89T>G (p.Leu30Trp)	SMCHD1 (L30W)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 499693	NM_015295.3(SMCHD1):c.90G>A (p.Leu30=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436158	NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)	SMCHD1 (D32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168463	NM_015295.3(SMCHD1):c.105A>G (p.Glu35=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2051994	NM_015295.3(SMCHD1):c.109G>A (p.Glu37Lys)	SMCHD1 (E37K)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1929878	NM_015295.3(SMCHD1):c.114C>A (p.Ser38=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1635300	NM_015295.3(SMCHD1):c.114C>G (p.Ser38=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2762179	NM_015295.3(SMCHD1):c.120C>T (p.Leu40=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 498564	NM_015295.3(SMCHD1):c.120del (p.Asp42fs)	SMCHD1 (D42fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 499318	NM_015295.3(SMCHD1):c.121G>A (p.Gly41Arg)	SMCHD1 (G41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502408	NM_015295.3(SMCHD1):c.130C>A (p.Pro44Thr)	SMCHD1 (P44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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