63895[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	LOC126862722, LOC126862723 +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 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 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +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	DTNA, DYM +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	LINC01478, LINC01538 +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	LOC130062393, LOC130062394 +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 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	RNF138, RNF152 +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	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +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 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 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 137628	NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer)	PIEZO2	Deletion (nonsense)	Gordon syndrome	GPathogenic
Select item 1314136	NM_001378183.1(PIEZO2):c.8581A>G (p.Arg2861Gly)	PIEZO2 (R2748G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974867	NM_001378183.1(PIEZO2):c.8555C>T (p.Ser2852Leu)	PIEZO2 (S2739L +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GLikely pathogenic
Select item 137634	NM_001378183.1(PIEZO2):c.8554T>C (p.Ser2852Pro)	PIEZO2 (S2739P +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 235838	NM_001378183.1(PIEZO2):c.8547del (p.Tyr2850fs)	PIEZO2 (Y2737fs +1 more)	Deletion (frameshift variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 560382	NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder +1 more	GLikely benign
Select item 2968824	NM_001378183.1(PIEZO2):c.8527T>C (p.Tyr2843His)	PIEZO2 (Y2755H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235839	NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)	PIEZO2 (E2727del +1 more)	Microsatellite (inframe_deletion)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +2 more	GPathogenic
Select item 748790	NM_001378183.1(PIEZO2):c.8505A>G (p.Glu2835=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631524	NM_001378183.1(PIEZO2):c.8492G>A (p.Arg2831Gln)	PIEZO2 (R2718Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 137632	NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro)	PIEZO2 (R2718P +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 137631	NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu)	PIEZO2 (R2718L +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 1309591	NM_001378183.1(PIEZO2):c.8491C>T (p.Arg2831Ter)	PIEZO2 (R2718* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1309881	NM_001378183.1(PIEZO2):c.8480T>C (p.Ile2827Thr)	PIEZO2 (I2714T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784545	NM_001378183.1(PIEZO2):c.8456G>A (p.Arg2819Gln)	PIEZO2 (R2706Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1587347	NM_001378183.1(PIEZO2):c.8412G>A (p.Gly2804=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 973945	NM_001378183.1(PIEZO2):c.8395C>G (p.Arg2799Gly)	PIEZO2 (R2686G +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +1 more	GPathogenic/Likely pathogenic
Select item 137630	NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)	PIEZO2 (R2686C +1 more)	Single nucleotide variant (missense variant)	Gordon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2856755	NM_001378183.1(PIEZO2):c.8386A>C (p.Lys2796Gln)	PIEZO2 (K2708Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028750	NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu)	PIEZO2 (K2796E +1 more)	Single nucleotide variant (missense variant)	Gordon syndrome	GUncertain significance
Select item 989306	NM_001378183.1(PIEZO2):c.8384G>T (p.Gly2795Val)	PIEZO2 (G2682V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018626	NM_001378183.1(PIEZO2):c.8358A>G (p.Leu2786=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725646	NM_001378183.1(PIEZO2):c.8346-10T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245795	NM_001378183.1(PIEZO2):c.8346-264T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212637	NM_001378183.1(PIEZO2):c.8345+176A>G	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204328	NM_001378183.1(PIEZO2):c.8345+98T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988738	NM_001378183.1(PIEZO2):c.8345+17C>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770802	NM_001378183.1(PIEZO2):c.8340C>T (p.Gly2780=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder +1 more	GBenign/Likely benign
Select item 2607644	NM_001378183.1(PIEZO2):c.8326G>T (p.Gly2776Trp)	PIEZO2 (G2663W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505057	NM_001378183.1(PIEZO2):c.8320A>G (p.Ser2774Gly)	PIEZO2 (S2661G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377965	NM_001378183.1(PIEZO2):c.8300A>G (p.Asn2767Ser)	PIEZO2 (N2654S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507087	NM_001378183.1(PIEZO2):c.8288T>G (p.Leu2763Arg)	PIEZO2 (L2650R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727691	NM_001378183.1(PIEZO2):c.8268G>A (p.Pro2756=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2470223	NM_001378183.1(PIEZO2):c.8267C>A (p.Pro2756Gln)	PIEZO2 (P2643Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3020803	NM_001378183.1(PIEZO2):c.8266C>G (p.Pro2756Ala)	PIEZO2 (P2668A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690795	NM_001378183.1(PIEZO2):c.8260T>C (p.Tyr2754His)	PIEZO2 (Y2641H +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 3212744	NM_001378183.1(PIEZO2):c.8253C>G (p.Asn2751Lys)	PIEZO2 (N2663K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 261531	NM_001378183.1(PIEZO2):c.8250A>T (p.Gly2750=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3063750	NM_001378183.1(PIEZO2):c.8216A>T (p.Tyr2739Phe)	PIEZO2 (Y2626F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1186056	NM_001378183.1(PIEZO2):c.8181T>C (p.Ile2727=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1050238	NM_001378183.1(PIEZO2):c.8179A>T (p.Ile2727Phe)	PIEZO2 (I2614F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709333	NM_001378183.1(PIEZO2):c.8173A>G (p.Met2725Val)	PIEZO2 (M2612V +2 more)	Single nucleotide variant (missense variant)	Marden-Walker syndrome	GUncertain significance
Select item 1286540	NM_001378183.1(PIEZO2):c.8162-105C>T	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300737	NM_001378183.1(PIEZO2):c.8161+163T>G	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186358	NM_001378183.1(PIEZO2):c.8161+65T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023742	NM_001378183.1(PIEZO2):c.8161+16A>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2024387	NM_001378183.1(PIEZO2):c.8161+12A>G	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2396407	NM_001378183.1(PIEZO2):c.8159C>A (p.Ser2720Tyr)	PIEZO2 (S2632Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 792151	NM_001378183.1(PIEZO2):c.8157A>G (p.Leu2719=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722864	NM_001378183.1(PIEZO2):c.8143A>G (p.Ile2715Val)	PIEZO2 (I2602V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2584961	NM_001378183.1(PIEZO2):c.8140C>T (p.Pro2714Ser)	PIEZO2 (P2714S +2 more)	Single nucleotide variant (missense variant)	Gordon syndrome	GUncertain significance
Select item 1683712	NM_001378183.1(PIEZO2):c.8120C>T (p.Pro2707Leu)	PIEZO2 (P2594L +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis	GUncertain significance
Select item 2496093	NM_001378183.1(PIEZO2):c.8119C>T (p.Pro2707Ser)	PIEZO2 (P2594S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1180841	NM_001378183.1(PIEZO2):c.8109T>A (p.Tyr2703Ter)	PIEZO2 (Y2590* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the skeletal system	GPathogenic
Select item 1199926	NM_001378183.1(PIEZO2):c.8082-32C>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239724	NM_001378183.1(PIEZO2):c.8082-117T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293887	NM_001378183.1(PIEZO2):c.8082-147G>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 930886	NM_001378183.1(PIEZO2):c.8081+19A>C	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch	GUncertain significance
Select item 2811828	NM_001378183.1(PIEZO2):c.8081+17C>T	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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